1.INICAL MEDICINE OR THE MRCP PACES Volume 1: core clinical skills G, utam Mehta Bilallqbal

2. J Contents Station 1 (Abdomen system). 3 Station 1 (Respiratory system). 4~ StatJon l (Cardiovascular system). 105 Sutlon l (Control nervous system), 187 Station S (Brief clinical consultations). 328 Supplementary Cues A. Endocrine, 419 Supplementary Cases 8 . Locomotor, 460 Supp&emwttary Cues c.5acin.. 496 Supp4.ementary Cues D.Eyes. 567 XV 3. List ofAbbreviations t ! A&E AAFB ABCD score ABPA ABVD AC ACC ACE ACR ACTH ADA ADH ADPKD AF AFLP AFP AHA AICA AtOP - AIDS AlP- ALP ALT AML AMPA AMTS ANA ANCA anti-CCP anti-GBM anti-RNP AP APC APTI APUD ARDS A-R-P ARPKD ASA ASD ATS AVM AVNRT AVRT BC xvi raised lowered Accident and Emergency Department add-alcohol fast bacilli Age. Blood pressure. ~linical features, and Quration ofsymptoms allergic bronchopulmonary aspergillosis adriamycin, bleomycin, vinblastine, dacrabazine air conduction American College of Cardiolo~y angiotensin converting enzyiT e American College of Rheumatology adrenocorticotrophic hormone Adenosine deaminase activity antidiuretic hormone autosomal dominant polycystic kidney disease atrial fibrillation acute fatty liver of pregnancy alpha-fetoprotein American Heart Association anterior inferior cerebellar artery infarction acute inflammatory demyelinating polyradiculoneuropathy aquired immunodeficiency syndrome acute interstitial pneumonia alkaline phosphatase alanine aminotransferase acute myeloid leukaemia -amino-hydroxy-5-methyllsoxasole-4 propionic acid abbreviated mental test score antinuclear autoantibody anti-neutrophil cytoplasmic antibody Anti-cyclic citrullinated peptide anti-glomerular basement membrane antibody anti-ribonucleoprotein antibody anterio-posterior adenomatous polyposis coli activated partial thromboplastin time amine precursor uptake and decarboxylation acute respiratory distress syndrome Accommodation .Beflex freserved Autosomal recessive polycystic kidney disease atrial septal aneurysm atrial septal defect AmericanThoracic Society arteriovenous malfonnations atrioventricular nodal re-entry tachycardia atrioventricular re-entry tachycardia bone. conduction 4. BCC 8ACOPP BMD BMI BNF BNP BP bpm BPpV Ct..B CABG CADASIL CAM cAMP c-ANCA CAT DiD ODP CINCA qo CJ( CML CMV CNS COMT COP COPD COPP CPA CPCO CPR CRC CRH CRP CSF CT CTKUB CXR D-~.8 OMNE DCCT DOA.VP DHS Dl DIC DIP DIP DKA LIST OF ABBREVIATIONS bag} ce!l can::iooma bleomycin. etoposede. doxorubicln, cydophospfwnode. OncOYin. pn!dntsolone, pnx:a~ Bedcer's muscuN dystrophy body mass Index Bntish N.monal Formutvy brain natriuretic peptide blood pressure beats per minute benign paroxysm:al posttionl Vfll"tlao Citizens Advice Bureau coronary artery bypass graft cerebral autosomal dominant arterlopathy with subcortical infarcts and leucoencephalopthy Confusion Assess~nt Method cyclic adenosine monophosphato cytoplasmic antl-oeutrophil C)'(Opla.smlc antibody computerized axial tomoar'a9hY corooary hean disuse chronic infbmmatory ~polyneuropathy Qvonic !nf.um&e.~euroloclc. Cutaneous.and Articular Creut:zfeldt-j;akob ~ Creatinine kinase chronic myet.oid leub.eme cytomegalovirus central nervous system catechol-0-metttyt transferase cryptogenic organlzmg pneumonl chronic obstructive pulmonary dtseuo cyclophosphamide, Oncovln (vincristine), prednisolone, procarbazine cerebellopontine angle chronic progressive external ophthalmoplegia cardiopulmonary resuscitation colorectal cancer corticotrophin releasing hormone C-reactive protein cerebrospinal fluid computed tomography CT-kidneys. ureters, bbdder chest X-ray Qorsal.-A8duct Dose~ for Normal E.atlf1t provamme Diabetes Control and Comp4iaoona Trial desmopressd, Keu.te (synthetic: aNfo&ue o1 vuopresm) Drug Hypersensltllllty Syndrome dlabetes insipidlH disseminated intTIIVaSCIlar c~tton desquamative interstitial pneumonia distal interphalangeal diabetic ketoacidosis xvii 5. LIST OF ABBREVIATIONS DMARDs DMD DNAR DNCB DPA DPCP DPP-IV DRESS DVLA DVT EAA EBV ECCE ECG EDIC EDTA EEG EIA EMG ENA ENT EPS ERCP ERG ERS ESR FAP FBC FDA FOR FET FEV FH FNA FOB FRC FSH FTA FVC GALS GBS GFR GGT GH GHRH Gl GIST GLP-1 GMC GN xviii disease modifying anti-rheumatic drugs Duchenne's muscular dystrophy do not attempt resuscitation dinrtrochlorobenzene Data Protection Act (1998) diphenylcypropenone dipeptidyt peptidase IV Drug Reaction with EosinophiliSO Moderate 3-4 >7 90% of patients with idiopathic haemochromatosis. and is onP. of the earliest signs of the disease (th >ugh it may be mild). It is more evident on sun-exposed areas of the skin, i.e. the face and hands.The pigmentation c~.n vary from bronze to slate-grey to metallic grey discoloration. Other skin changes that can occur are ichthyosiform changes and skin atrophy (particularly on the anterior surface oflegs). 3. Haemochromatosis is a cause of koilonychia. Koilonychia affecting the thumb and index finger has been reported to occur in SO% of patients. Prominent koilonychia affecting all nails occurs in 25% of patients. Look for stigmata of chronic liver disease.These are absent early in the course of disease. Cirrhosis occurs in 13% of patients and occurs late. 4. Gynaecomastia and decreased body hair can be manifestations of chronic liver disease or hypogonadism. Hypogonadism occurs due to iron deposition in pituitary gland.Any pituitary deficit may be present. however hypogonadism is the most common.Visual field defects do not occur: Amenorrhoea in women is much less common than hypogonadj;;m in men. Partial loss of body hair s seen in 60% of patients. Complete loss of body hair is seen in 12% of patients.The pubic region is the most commonly affected area. 5. Hepatomegaly is common at presentation and is firm and regular:Whilst cirrhosis only occurs in 10-1 5% of patients, the risk of hepatocellular carcinoma in patients with haemochromatosis and cirrhosis is greater than for other liver diseases.. Some specialists advocate increased frequency of hepatocellular carcinoma surveillance in these patients (3-monthly rather than 6-monthly). 6. A hepatic bruit in the context of haemochromatosis signifies the development of hepatocellular carcinoma, and a hepatic venous hum indicates portal hypertension. 7 Arthropathy (pseudogout) is due to calcium pyrophosphate crystal deposition.The most common distribution is a symmetrical, small-joint arthropathy, similar to rheumatoid arthritis. However, arthralgia is more common than synovitis.The most commonly affected joints are the metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints. Inspect the hips and knees for joint replacement scars when examining the legs for oedema. 8. Look at the lateral aspects ofthe fingertips for skin pricks. which indicate glucose testing. Furthermore, when palpating the abdomen for masses look for evidence of lipoatrophy and lipohypertrophy in the subcutaneous tissue as a clue to suggest insulin administration. 9 If the diagnosis of haemochromatosis is presented, then tell the examiner you would like to look for: (a) Diabetes:finger pricks (glucose testing). fundoscopy(retinopathy). urinalysis (glycosuria) (b) Restrictive or dilated cardiomyopathy: raised venous pressure, third or fourth heart sound Questions commonly asked by examiners What is the mode ofinheritance ofhereditary haemochromatosis? Hereditary haemochromatosis is inherited as an autosomal recessive trait.The HFE gene has been localized to the short arm of chromosome 6 (6p21.3). 19 28. ABDOMEN SYSTEM Most Ciucasian patients with haemochromatosis are homozygous fo r the cysteine-to-tyrosine substitution at position 282 (C282Y).A smaller proportion are homozygous for the histidine-to- aspartate substitution at position 63 (H63D).A minority are compound heterozygotes for these mutations. How does one diagnose haemochromatosis? Diagnosis of iron overload Iron overload is suggested by serum iron studies.A fasting transferrin saturation >60% in males, or >50% in females. has a high specificity for !ron overload. In clinical practice, a transferrin saturation >45% is considered significant enough to warrant investigation.The serum ferritin is also elevated in iron overload, how.,ver since ferritin is an acute phase prote1n, the specificity of this test is less than for transferrin ~aturation. Liver biopsy. to confirm parenchymal iron deposition, is considered if the blood tests suggest abnormal liver function. Diagnosis of haemochromatosis Genetic testing for the C282Y and H63D mutations will confirm the diagnosis of haemochromatosis in over 90% of cases. However, other mutations are responsible for some cases of haemochromatosis, particularly in non-Caucasian populations. First-degree relatives of patients with haemochromatosis should uns:fergo screening with genetic testing. What is the treatment ofhaemochromatosis? Phlebotomy is the mainstay of treatment for haemochromat9sis. Initially, one unit of blood should be removed once to twice weekly, until the transferrin saturation falls below SO%, or the ferritin falls below SOng/mL Maintenance phlebotomy should then be performed every three months. Iron removal through phlebotomy improves insulin sensitivity, fatigue, and skin pigmentation. However. arthropathy, hypogonadism,and cirrhosis do not respond to treatment. Hepatocellular cancer (HCC) accounts for 30% of all deaths in haemochromatosis,therefore all patients with cirrhosis should undergo HCC surveillance with six-monthly ultrasound and a-fetoprotein measurement. What are the cardiac complications ofhaemochromatosis? Haemochromatosis can cause a restrictive or dilated cardiomyopathy. Cardiac MRI (magnetic resonance imaging) is a sensitive modality for detecting myocardial iron deposition. Do you know any other causes ofiron overload? Conditions requiring regular blood transfusion (haemoglobinopathy or refractory anaemia) are a cause of transfusional iron overloadIf phlebotomy cannot be used to treat these patients, iron chelators such as desferrioxamine are used to decrease body iron.Porphyria cutanea tarda, most commonly associated with hepatitis C infection, is also associated with iron overload and abnormal liver function. Case 6 + Prim~ry Biliary Cirrhosis CASE PRESENTATION This m iddle-aged lady' is icteric,1 with generoUsed hyperpigmentation.1 There is no evidence ofanoem1a. There is clubbing. xanthelasma,5 tendon xanthomotaS and multiple excoriation marks. There are 20 29. CASE 6 PRIMARY BILIARY CIRRHOSIS multrpie petechiae and echymoses.1 Multiple spider naevi are present on the upper limbs, rrunk. and (OCP There is hepatosplenomegaly with the liver edge palpable 3cm below the costal margin8 and the splenic edge palpable Jcm below the costal margin. There are no hepatic bruits but there is a hepatic venous hum.'0 There IS no osci!eS, peripheral oedema, or signs ofhepatic encephalopathy. Th1s pat1ent has kyphos~> and there is evidence ofold fractures, suggestive ofmetabolic bone disease. There 1S proximal muscle wasting and weakness. There ore fearures to suggest autoimmune disease.'' 1he diagnOSIS is primary biliary cirrhosis with portal hypertension. Clhlical notes 1. A middle-aged female patient with chronic liver disease is highly suggestive ofprimary biliary cirrhosis. It is important to rememberthat approximately 75-90% of patients are female. although mates can be affected. 2. jaundice is a late feature ofthe disease. 3 Pigmentation is due to melanin deposition rather than jaundice. 4 The causes of anaemia in primary biliary cirrhosis include Gt blood loss (oesophageal varices and pept1c ulcers) and those related to additional underlying autoimmune disorders (pernicious anaemia, atrophic gastritis, and Coeliac's disease). It is important to remember that there is an increased incidence of peptic ulcer disease in patients with primary biliary cirrhosis. 5. Xanthalesma occur in 10% of patients, and often occur late in the disease.Tendon xanthomata can occur, but are uncommon. B,9th are a consequence of hypercholestero laemia. 6. Prurttis is a common presenting symptom, even in the absence of advanced liver disease. Dermatological manifestations are the presenting feature in a third of patients.These include xerosis, dermographism, and fungal nail infection. Be aware of skin findings that would relate to additional underlying autoimmune diseases (see below). 7. Coagulopathy and thrombocytopenia are features of chronic liver disease and portal hypertension (see Case 1 Chronic Liver Disease). However. primary biliary cirrhosis is also associated with malabsorption of fat-soluble vitamins (A. D, E, and K).Therefore, vitamin K malabsorption contributes to the coagulopathy seen in primary biliary cirrhosis. 8. Hepatomegaly occurs in 70% of patients and is often smooth and non-tender. It is Important to note that in 10% of patients there is unexplained right upper quadrant discomfort, thus one should be especially careful to avoid causing discomfort when examining these patients! 9. Splenomegaly and ascites are late features of the disease and indicate portal hypertension. Of note, patients with primary biliary cirrhosis may develop oesophageal varices and variceal haemorrhage early in the course of d1sease, even in the absence of established cirrhosis. 10. Hepatic bruits would signify malignancy, which is a complication of the disease.A venous hum would signify portal hypertension. 11. Although this case is similar to other cases of chronic liver disease, the successful detection of additional clinical features will enable the candidate to make the correct diagnosis of primary biliary Cirrhosis. If additional features are not present. then it would be best to present the d1agnosis as 'chronic liver disease' or 'isolated hepatomegaly/splenomegaly' and provide a differential diagnosis. Throughout your examination look for the following features: (a) Kyphosis and evidence of old fractures (osteopenia and osteoporosis} (b) Proximal myopathy (osteomalacia) (c) Features of other autoimmune diseases: Graves disease: goitre (?thyroidectomy sc_.r), eye signs, thyroid acropachy, pretibial myxoedema, features of hypo- or hyperthyroidism Sjogren's syndrome: dry mouth, dry eyes Rheumatoid arthritis: symmetrical deforming arthropathy, eye signs 21 30. ABDOMEN SYSTEM ----------------- --- ------- Scleroderma: telangiectasia, tight shiny skin, sclerodactyly, calcinosis, dystrophic nails Dermatomyositis: heliotrope rash, Gottron papules Idiopathic pulmonary fibrosis: bibasal crepitations Myasthenia gravis: myasthenic facies, ptosis, diplopia, proximal weakness,and fatigability Vitiligo: hypopigmented patches Atrophic gastritis: pallor, koilonychia-iron deficiency anaemia Questions commonly asked by examiners What are the clinical features of primary biliary cirrhosis? Fatigue, pruritis, and hypercholesterolaemia occur at all stages. Liver diselse occurs late, and is rarely a presenting feature, particularly with recent advances in diagnosi~ and treatment. How does one diagnose primary biliary cirrhosis? Serum anti-mitochondrial (M2) antibodies are present in 95%. ln the presence of cholestasis and positive antibodies, liver biopsy may not be required.The histological lesion is portal tract granuloma, progressing to cirrhosis. Ultrasound and ERCP,'MRCP (endoscopic retrograde cholangiopancreatography/magnetic resonance cholangi9pancreatography) are often performed to exclude extra-hepatic cholestasis. Which drugs con cause cholestasis? Phenothiazines Sulphonamides Penicillins Rifampicin Macrolides Carbamazepine Synthetic androgenic steroids Didofenac What is the prognosis ofprimary biliary cirrhosis? It is associated with increased mortality, however less than half of deaths are liver-related. Fatigued patients have a worse outcome, and are more likely to have a non-liver related death. What is the management ofprimary biliary cirrhosis? Supplementation of fat soluble vitamins Due to fat malabsorption, and subsequent loss of fat-soluble vitamins, vitamins A, D, E, and K should be supplemented. Treatment of bone disease Patients should also undergo bone densitometry to screen for metabolic bone disease. Osteoporosis occurs in up to a third of patients. Severe bone disease that resulted in multiple fractures is now uncommon.There is no proven treatment for bone disease associated with primary biliary cirrhosis except liver transplantation.Vitamin D and calcium supplementation should be given. Bisphosphonates may increase bone density. Oestrogen replacement may improve osteoporosis in post-menopausal women. Treatment of hypercholesterolaemia The serum cholesterol may be markedly elevate d in patients with primary biliary cirrhosis. lnt:erestingly. patients with primary biliary cirrhosis do not appear to have an increased mortality secondary to atherosclerosis. Cholesterol lowering agents (statins) may be used if the LFTs are monitored appropriately. 22 31. CASE 7 A 'RENAL' ABDOMEN Tre atment of liver disease Ursodeoxycholic acid has been shown to improve liver biochemistry and possibly retard disease progression. It is the only d rug approved by the US"Food and DrugAdministration (FDA) in the treatment of primary biliary cirrhosis. However,a convincing effect on histology or transplant- free survival has not been demonstrated. Management of pruritis Pruritis is thought not to be a result of bile acid deposition in the skin but rather a consequence of bile acids on sensory nerve fibres. Biliary obstruction must be excluded. Colestyramine has limited data on efficacy, but it is safe and frequently used. However, it will prevent absorption of othe~ a rugs taken simultneously, such as ursodeoxycholic acid. Rifampicin has been shown to be effective in four placebt -controlled trials. Naltrexone has a lso been demonstrated to be effective in tl"oree trials, although the antlopioic:l mechanism of action often exacerbates chronic pain. Anti-histamines do not work, and may worsen encephalopathy. Manage ment of fatigue Fatigue is not a consequence of co-morbid depression.Co-existent hypothyroidism or anaemia must be excluded. Naltrexone may be of some benefit. Referral for transplantation Patients are referred fo r transplant considerat ion when the serum bilirubin >501Jmol/L, or in the prese nce of refractory fatigue or pruritis. Recurrence in the graft may occur (15% at 3 years and 30% at 10 years). Case 7 A 'Renal' Abdomen --- - - ---------------------------- Examine r's note A 'renal' abdomen is a common case at the abdomen statio n in the MRCP(PACES) clinical examination.These patients are often stable on their renal replacement therapy and have many clinical signs, and thus are good for clinical examinations.The method of renal replacement therapy is often very clear or, otherwise, can be easily deduced.To obtain a 'pass' at this station is straightforward. but these patients display many clinical signs that relate to previous methods of renal replacement therapy: previous complications of renal replacement therapy; complications of immunosuppressive therapy; and pos~ibly underlying aetiology of renal disease.The refore, many additional marks can be gained, and transforming a 'pass' into a 'clear pass' is very simple. Candidates are often poorly prepared for t his station, and it is important to be aware of the different methods of re nal re placement therapy and the multiple clinical signs one must look for when examining such patients. When presenting a case at the abdomen station, a generic approach that has been adopted in this book and one that is commo nly favoured by examiners starts periphe rally from the hands to the face and ending on the abdomen. However, in a renal abdomen, the approach to presentation iS different, and the following structured framework should be used: 1. Current mode of renal replacement therapy 2. Previous modes of renal replacement therapy (old scars) 3. Adequacy of re nal replacement therapy (uraemia and 'volume status) 23 32. ABDOMEN SYSTEM 4. Complicationsof renal failure, i.e. anaemia 5. Complications immunosuppressive therapy (often with renal transplantation) 6. Aetiology of renal disease {this may not be possible) CASE PRESENTATION 1 This patient has a tunnelled central venous catheter in the right subclavian vein, with no evidence of catheter-site infection. 1 There are also scors onthe chest wall from previous sites ofvascular access for haemodialysis, and there is a functioning and immature arteriovenous fistula in the left arm.2 . There is no asterixis ofthe out-stretched hc.nds and there are no signs ofuroemlo. The venous pressure is r.ot elevated, there is no peripheral oedema, and the patientis euvolaemic.3 There is no clinical evidence ofanaemia. There are pinpricks at the lateral aspects ofthe fingertips, indicating frequent glucose testing. There is llpohypertrophy ofthe subcutaneous tissues indi.::ating subcutaneous insulinuse.6 Thispatient has end-stage renal failure and receives renal replacement therapy through hoemodiolysis. The patient currently receives haemodialysis through a tunnelled venous catheter whilst the arteriovenous fistula matures. The most likely aetiology ofrenal disease is diabetes.7 CASE PRESENTATION 2 This patient has a peritoneal dialysis catheter in the abdomen. with no evidence ofcatheter-site infection. The abdomen is distended. soft and non-tender. There is a midline laparotomy scar. There is flank dullness that shifts with rotation ofthe patient. consistent with dialysis fluid within the peritoneal cavity. There are no abdominal wall herniae.1 There are also scars from previous sites ofvascular access for haemodialysis.2 There is no asterixis ofthe out-stretched hands and there are no signs ofuroemla. The venous pressure is not elevated, there is no peripheral oedema. and the patient is euvolaemlc.3 There is no clinical evidence ofanaemia. There ore no peripheral stigmata ofsystemic disease Th.is patient has end-stage renal failure and receives renal replacement therapy through peritoneal dialysis. The aetiology or renal disease is not clear (but has a differential diagnosis).' CASE PRESENTATION 3 This patient has a scor in the right IUoc fossa. This overlies a smooth. firm. and non-tender moss.' It has a dull percussion note. There is no associated bruit There are scars on the chest wan from previous sites of vascular access for haemodiafysjs. There is a non-functioning arteriovenous fistula in the right arm.2 There is no asterixis ofthe out-stretched hands'and there ore no signs ofuroemla. The venous pressure is not elevated. there is no peripheral oedema, and the patient is euvolaemic.3 There is no clinical evidence ofanaemia! There is evidence ofgum hypertrophy. There are no stigmata ofactive infection.' There is on erythematous. maculopapular rash in a butterfly dktrlbution over the cheeks and the bridge ofthe nose, sporing the nasolabial folds. with scaling and follicular plugging. There is also a symmetrical arthropathy of the small joints ofthe hands.6 . 24 33. CASE 7 A 'RENAL' ABDOMEN Thr~ paoent has end-stage renal failure and has a renal transplant Gwen rhe patient rs etNolaemic an< Scm) Comment on whether it is tender or non-tender Comment on the consistency (often a firm mass) Percuss over the mass (usually a dull percussion note) Auscultate for bruits 2. Previous modes of renal replacement therapy. Look carefully for scars In the subctavicular areas for previous tunnelled lines scars. Look carefully on the arms for arteriovenous fistulae. Look carefully for scars on the abdorninal walt indicating previous peritoneal dialysis. Mal .:" CASE PRESENTATION -:.. .... . , ~ This patient is breathless at rest and audible.wheeze con be heard with the unaided ear. 1 There is pursed lip breathing during prolonged expit'ation.2 There is nicotine staining ofthe (tnger's.3 The (tngers ore not clubbed.4 There is no (iopping tremor ofthe outstretched hands.5 The venous pressure is-not elevated6 The trachea is central with a reduced cricoid-notch distance.7 There is a tracheal tug.8 The patient uses the accessory muscles of respiration and there is indrawing of the lower intercostal muscles on inspiration. 10 The chest is hyper-inflated.and chest expansion is primarily vertical With reduced horizontol chest expansion. 11 The percussion noteis hyper-resonant.throughout both lung (telds, obliterating the cardiac and hepatic dullness. The breath sounds are quiet, .particularly atthebases.11 The expiratory phose is prolonged with widespread expiratory wh~~ze. 13 The forced expiratory time (FET) is greater than 6 seconds in keeping with a diagnosis ofairflow obstruction.14 There is no . peripheral oedema. There are no signs of pulmonary hypertension.15 The diagnosis is chronic obstructive pulmonary disease (COPD). Clinical notes 1. In certain cases, wheeze can be heard from the end of the bed. Often the patients are receiving oxygen therapy and it is important to look for this.Ask the patient to cough__:patients often have a chronic productive cough. Look for the sputum pot by the bedside. 2.. Obstructive airways disease is characterized by airflov .imitation and the.expiration phase of the .resp.lratory cycle is prolohged. Pursed lip breathing provides a mechanism of splinti~g the airways open during expiration. 47 55. RESPIRATORY SYSTEM ---------------:---:------'--------------------------------------~------------------------------7"-------:----- . 3. Smoking is associated with COPD. Look for nicotine s.tainihg of the fingers. Always look.for the steroid purpur~ of chronic steroid use in -patients with longstanding COPD. lf present, look for other features of steroid use: cushingoid appearance and proximal myopathy'---if correctly identified and pr~sented, this will impress examiners. 4. Often these patients have a strong smoking history, and thus are at high .risk of developing carcinoma of the lung.Therefore, if clubbing is not present, it is an important negative to mention when presenting the clinical findings. 7. In advanced cases, or those with acute exacerbation, there is severe hypercapnoea, which may manifest as a #lapping tremor of the outstretched hands. In chronic severe hypercapnoea, there may be papilloedema. 6. Long-standing COPD is an important cause of pulmom:ry hypertension. Look for an elevated venous pressure, and if present, the other signs of pulmonary hypertension must be socght. 7. COPD i' characterized by a hyper-Inflated chest, thus 6 seconds demonstrates airflow obstruction. 15. Look for signs of putmonaqt hypertension and cor pulmonale. Even if not present, they areimportant negatives to m~ntio'n. Questions commonly asked by examiners Howdo you define (a) COPD, (b) chronic bronchitis, (c) emphysema and (d) airflow obstruction? (a) COPD: Progressive and irreversible (or partially reversible)* airflow obstruction due to chronic bronchitis or emphysema. (b) Chronic bronchitis: Cough productive of sputum on most days for 3 months during 2 consecutive years (a clinical diagnosis). * There may be an element of reversibility in airflow obstruction owing to some degree of airway hyper-reactivity. 48 56. I lt t t I CASE 12 COPD (c) Emphysema:Abnormal and permanent enlargement of air spaces distal to the terminal bronchioles associated with destruction of their walls without obvious fibrosis (a pathological diagnosis). (d) Airflow obstruction: FEY,< 80% predicted and FEY,: FVC < 70%. What are the differences between chronic bronchitis and emphysema? Feature Chronic bronchitis Emphysema -- - - - --------------------------------- Diagnosis Appearance Cyanosis Hyper-inflation Dyspnoea Cor pulmonale Inspiratory drive A clinical d1~gnosis A pathological diagnosis 'Blue bloater' 'Pink puffer' Prominent Absent + + ++ Reduced ++ ++ + Present What is the pathophysiology ofCOPD? The pathological changes of COPD occur in the large central airways. small peripheral bronchioles, and lung parenchyma. Activated neutrophils and macrophages release elastases, which cannot be effectively counteracted by the anti-proteases.Thls imbalance between protease and anti-protease activity results in lung destruction. Smoking Induces macrophages to release neutrophil chemotactic factors and elastases.Additionally,smoking results in increased oxidative stress due to free radicals that leads to apoptosis and necro!!is. Chronic bronchitis Mucosal gland hypertrophy is the histological hallmark.The primary changes occur within the bronchiolar walls with hyperplasia of the smooth muscle, inflammation, bronchial wall thickening, ciliary abnormalities and focal squamous metaplasia.The respiratory bronchioles show an inflammatory process with lumen occlusion by mucous plugging. goblet cell metaplasia, smooth muscle hyperplasia and fibrosis.These changes combined with loss of alveolar attachments. cause airflow limitation. Emphysema There are two common morphological patterns: CENTRI-ACINAR PAN-ACINAR Airway involvement Limited to respiratory bronchioles and central portions of acinus. More distal alveolar ducts and alveoli are well preserved. The whole acinus with the entire alveolus distal to the terminal bronchiole. Pattern of damage Upper lobes and apex > lower lobes Lower lobe > upper lobes and apex A combination of emphysema and bronchitis are found in patients with COPD.When emphysema is more predominant, loss of elastic recoil rather than bronchiolar inflammation is the mechanism of airflow limitation.When bronchitis is more predominant, bronchiolar inflammation is more responsible for airflow limitation. Is airflow obstruction reversible in COPD? Airflc 1 obstruction in emphysema is irreversible. However, there is some degree of bronchial hyper-reactivity with bronchoconstriction due to inflammation in chronic bronchitis.This accounts for some degree of airflow obstruction 49 57. RESPIRATORY SYSTEM reversibility in COPD. In patients with COPD. 30% of demonstrate an increase in FEV1 by 15% or more after bronchodilator therapy. What are the causes of COPD? Common causes Smoking a, antitrypsin deficiency Coal dust Rarer causes Swyer-James syndrome mixed centri-acinar and pan-acinar pattern pan-acinar pattern centri-acinar pattern a cause of unilateral emphysema (see page) How would you investigate this pat.ient? Bloods CXR ECG FBC (i white celt count (WCC) in infective exacerbations or may reflect chr..:>nic steroid use (neutrophilia); i haemoglobin (Hb) in secondary polycythaemia) Urea and electrolytes (U&E) (important to know K, especially with bronchodilator therapy, which witt lower it) LFT (hepatic involvement in a, antitrypsin deficiency) Inflammatory markers (acute infective exacerbations) Serum a, antitr ypsin assay (for a, antitrypsin deficiency)* Hyper-inflated lung fields with flattened hemidiaphrgams Long narrow heart shadow Hypertucency of lung fields Bullae Increased retrostemat airspace in lateral films Prominent hilar pulmonary vasculature (if pulmonary hypertension is present) Right ventricular hypertrophy +/- strain Right atrial hypertrophy (P pulmonate) Multifocal atrial tachycardia* ABG Type 2 respiratory failure (p.0 2 6) Elevated HC03 - in chronic compensated respiratory acidosis in stable patients Respiratory acidosis in acute exacerbations Useful for deciding suitability for long-term oxygen therapy Sputum Microscopy culture and ser.sitivity Lung function tests FEV, < 80% predicted AND FEV,:FVC < 70% (airflow obstruction) i TLC, FRC, and RV .!. vital capacity (VC) * Always measure serum a 1 antitrypsin assay in patients aged < 40years, o r those with a family history. * This tachycardia is characterized by HR >100bpm, at least 3 different P wave morphologies with varying PR intervals.This is a benign arrhythmia and can be seen during acute exacerbations. 50 58. CASE 12 COPD J.T.co (carbon monoxide transfer factor) (decreased in proporuon to severny ofCOPO) HRCT The most sensitive technique for d1a_anosing emphysema.u sometimes bullae may not be seen on a chest radiograph. What are the mort common pathogens in acute infective exacerbations? Strepux:occus pneumonloe ~~Rusln~uenzoe Moroxello cotorrholis How would you manage an acute infective exacerbation o...COPD? 24% oxygen Nebulized bronchodilators Antibiotics Steroldsb Consider Intravenous theophylline if poor response to nebulized bronchodilators Non-invasive ventilation for severe hypercapnoek resptratory failure (pH ~ wrthou1; worse"'na the hypercapnoea V>d preaptUtln& resporatO2cm from carina), lung atelectasis T3 Extrapulmonary extension with limited involvement of parietal or mediastinal pleura, fat, pericardium,and diaphragm; involvement of main bronchus (;ectasis Malignancy Tuberculosis Figure 16.1 left thoracotomy scar. Note that these scars can be very posterior and can initially be missed. This is common especially with left thoracotomy scars, when approaching and examining patients from the right side. 73 81. RESPIRATORY SYSTEM Case 17 Old Tuberculosis Examiner's note Before the advent of effective chemotherapy. tuberculosis was treated in many ways.Although these methods are now obsolete, there are patients who are still alive and well today that were treated by such methods.They are stable whilst displaying many clinical signs and thus commonly appear in MRCP (PACES) examinations.The clinical presentations for old tuberculosis in examinations (some of which are presented J,e(ow) include: Apical fibrosis Thoracoplasty Pneumonectomy Lobectomy Plombage therapy (may be difficult to clinically differentiate from lobectomy) Phrenic nerve crush Recurrent pneumothoraces (manifesting as pleural thickening) CASE PRESENTATION 1 This patient is not breathless at rest The fingers are not clubbed. There is no evidence ofnicotine staining. The venous pressure is not elevated. There ore no palpable lymph nodes. The trochea is deviated to the right. On inspection ofthe chesc there is right oplcol flattening. There ore no scars. Chest expansion is reduced in the right Uf>Per zone. The percussion note is dull; vocal fremitus is increased: breath sounds ore reduced with lnspirotory crepitations at the right apex. There is bronchial breathing aver the deviated trachea. The diagnosis is apical fibrosis, ofwhich old tuberculosis is an important cause. Clinical notes The above clinical findings would suggest an apical pathology.This could represent malignancy, consolidation, collapse, or fibrosis. 74 Malignancy: look for clubbing, cachexia. nicotine staining. and lymphadenopathy; there may be features of a Pancoast syndrome (CS-T1 sensory disturbance and Homer's syndrome); clubbing and lymphadenopathy may also be features of tuberculosis. Consolidation: dull percussion note, increased vocal fremitus. and bronchial breathing (although bronchial breathing would be expected over a deviated trachea). Collapse: dull percussion note, reduced vocal fremitus, and breath sounds.Although bronchial breathing is not associated with collapse, it can be heard over the deviated trachea. Fibrosis: T-he presence of crackles should differentiate this from the above, although crackles may be present in the context of malignancy and possibly consolidation. Crackles may be present in the context of infection. Fibrosis is often as'sociated with a non-productive cough. 82. t ~ r !- t CASF. 17 OLDTB and thus the crackles of fibrosis may be differentiated from that of infection by asking the patient to cough. The differential diagnosis of apical fibrosis (mnemonic: BREASTS CLAP): B.erylliosis Radiation Extrinsic allergic alveolitis (hypersensitivity pneumonitis) Allergic bronchopulmonary aspergillosis Sarcoidosis (upper to mid zones) Iuberculosis Silicosis Coal worker's pneumoconiosis Langerhans cell histiocytosis (Histiocytosis X) Ankylosing spondylitis esoriasis (very rare) CASE PRESENTATION 2 This patient is not breathless at rest. The fngers are not clubbed. There is no evidence ofnicotine staining. The venous pressure is nor elevated. There are-no palpable lymph nodes. The trachea Is grossly deviated to the right. On inspection ofthe chest there is a left thoracotomy scar posteriorly with evidence ofrib resections superiorly on the left Chest expansion Is reduced; the percussion note Is dull; vocal fremitus Is reduced and there are crepitations at the left upper zone. There is bronchial breathing over the deviated trachea. This patient has had a left thoracoplasty for the treatment oftuberculous before the days of anti-tuberculosis therapy. Clinical notes A patient with a thoracoplasty for old TB can cause some confusion in examinations, and is often confused with a pneumonectomy. Both present as chest deformities, however the deformity is more marked with a thoracoplasty. Differentiating clinical features include: Clinical feature Thoracoplasty Pneumonectomy ----- Deformity More prominent with evidence of Present. but less marked rib resections superiorly Chest expansion Reduced in the upper zone, Reduced throughout the corresponding to the area of affected hemithorax rib resections Percussion note Dull in the upper zone Dull throughout the affected hemithorax Breath sounds Reduced in the upper zone, Absent throughout the but present in the lower zot.es affected hemithorax 75 83. RESPIRATORY SYSTEM CASE PRESENTATION 3 This patient is not breathless at rest. The fingers are not clubbed. There is no evidence ofnicotine staining. The venous pressure is not elevated. There are no palpable lymph nodes. The trachea is not deviated. On inspection ofthe ches~ there is a left supraclavicular scar. Chest expansion Is reduced on the left. The percussion note is dull and vocal fremitus is reduced and breath sounds ore reduced at the left base. This patient has had a left phrenic nerve crush for the treatment oftuberculosis before the days of anti-tuberculosis therapy. Clinical notes The differential diagnosis for the above chest findings would include pleural effusion, collapse, pleural thickening. and raised hemidiaphragm. In case of a phrenic nerve crush,the underlying pathology accounting for the clinical signs is a raised hemidiaphragm due to d iagrammatic paralysis. The key clinical feature pinpointing previous phrenic nerve crush as the d iagnosis is the presence of a left supraclavicular scar:This is often missed and needs to be carefully looked for. If there is no supraclavicular scar, but there are numerous scars suggesting previous recurrent thoracocentesis of the affected side, then in the context of oldTB the diagnosis may be pleural thickening resulting from recurrent pneumothoraces (another method of treatment before the days of chemotherapy). Questions commonly asked by examiners What is the prevalence ofTB? The prevalence worldwide Is 2 billion individuals, with 8 million cases diagnosed every year: 95% of all cases occur in developing countries. Which patients are at increased risk ofdeveloping tuberculosis? Immigrant po pulation (from countries with a high incidence ofTB) lmmunocompromised individuals (malignancy, HIV/AIDS, immunosuppressive drugs) Elderly patients Alcoholics Malnutrition Homeless individuals Occupational exposure (doctors, nurses, and chest physiotherapists) How do you manage a patient with old TB? Old TB does not require any specific anti-tuberculosis treatment.Treatment is required if there is re;~ctivation of tuberculosis or associated long-term complications, e.g. bronchiE:ctasis. What ore the complications oftuberculosis? Acute complications Pneumothorax Pleural effusion Empyema Collapse* Tubulointerstitial nephritis * Right m iddle lobe collapse can occur due to hilar node involvement by tuberculo sis (Bn-ck's syndrome) 76 84. CASE 17 + OLDTB Laryngitis Enteritis Respiratory failure Acute respiratory distress syndrome (ARDS) (rare) Tuberculous meningitis MiliaryTB (widespread dissemination via bloodstream) Chronic complications Pulmonary fibrosis Bronchiectasis* Cor pulmonale (secondary to extensive disease and fibrosis) Aspergilloma (Afumigatus in a healed open cavity) Reactivation How do you investigate o patient with suspected TB? Blood tests FBC U&E LFT Inflammatory markers Blood cultures HN serology (all newly diagnosed patients with active TB) Chest radiograph Upper lobe involvement is most common Cavitating lesion is indicative of advanced infection Primary infection: hilar/mediastinal lymphadenopathy and radiological findings similar to a community acquired pneumonia Reactivation: classically upper lobe involvement (posterior segment of right upper lobe, apicoposterior segment of left upper lobe and apical segment of lower lobes) Tuberculomas are homogeneously calcified nodules (5-20mm) that represent old infection Uniform miliary shadows are seen in miliaryTB (tubercles are 1-2mm in diameter) Sputum Three sputum samples are required (early morning on 3 consecutive days) Smear using Ziehl-Neilson staining for acid-alcohol fast bacilli (AAFB) Culture in Dover's or Lowenstein-jense n medium for 4-8 weeks (to determine sensitivity takes another 3-4 weeks) For rapid diagnosis, polymerase chain reaction (PCR) using radiolabelled DNA probes can identify organisr.~s in 48 hours. Computed tomography May help to better define abnormalities in patients with vague f1ndings on chest radiographs Fibre-optic bronchoscopy Washings from affected lobes, if no sputum is ava11able Transbronchial biopsies can be obtamed * Right middle lobe bronchiectasis is a typical o utcome of hilar node involvement by tuberculosis in childhood (Brock's syndrome) 77 85. RESPIRATORY SYSTEM Does a negative smear exclude a diagnosis ofactive tuberculosis? The absence of a positive smear does not exclude active infection. Approximately 35% of culture-positive specimens are associated with negative smear results. When would you isolate a patient with active pulmonary tuberculosis? Isolation for 2 weeks is recommended for patients with smear positive TB.Those with smear-negative or non-pulmonaryTB do not require isolation. What is the role oftuberculin testing in active tuberculosis? Tuberculin testing indicates exposure to mycobacteria, and is not a sensitive test for active infection. It is most valuable as a screening test and for contact cases. In cases where sputum is negative on direct smear or culture, tuberculin testing is useful In a patient who has not p~viously had tuberculosis o r BCG vaccinatior:, a strongly positive tuberculin test ranks tuberculosis high among the differential diagnoses, and increases the probability that active tuberculosis is the diagnosis. What do you know about the different tuberculin tests available? MantouxTest Intradermal injection of 0.1 ml of purified protein derivative (PPD) The diameter of the induration (rather than the erythema) is measured at 72 hours Diameter > 1Omm or >15mm (if previously received BCG vaccination) is positive HeafTest More suitablE; for large scale screening A small amount of PPD Is placed on the skin and 6 needle puncture is made through it with a heafgun. After 3-7 days, the heaf reaction is graded as follows: Grade 1: 4-6 small. indurated papules Grade 2: indurated ring formed by confluent papules Grade 3: solid induration with a diameter of 5-10mm Grade 4: induration > 1Omm Grade 2-3 reaction indicates previous infection in those without prior BCG vaccination Grade 3-4 reaction indicates previous infection in those with prior BCG vaccination An anergic response is seen in sarcoidosis, lymphoma, advanced malignancy. HIV. immunosupression, and some weeks after measles and EBV infection. What is the role ofinterferon gamma testing in tuberculosis? This is an expensive test. However. in patients who have previously received BCG vaccination and have a strongly positive tuberculin test, an interferon gamma test will differentiate that and active tuberculosis as the cause of the strongly positive tuberculin test. What do you know about contact testing? All close contacts of those with active TB infection should be assessed with inquiry into previous BCG vaccination, Heaf testing and chest X-ray. What are the indications for chemoprophylaxis in tuberculosis? 78 All children aged less than 5 years who are close contacts with smear-positive individuals irrespective of tuberculin test result. All patients with previous history oftuberculosis or radiological evidence of previous tuberculosis who are receiving immunosuppressive therapy (including renal dialysis) 86. CASE 17 OLDTB - - ------------------------------ - - ---- --~----------- How was tuberculosis treated in the days prior to effective chemotherapy? The most common i:reati-nents were rest, isolation, fresh air, good nutrition. and medical supe~vision. By the late 1800s it was thought that intentional collapsing oft)1e affected lung would allow the lung to rest and heal. However. this usually did nothing except to worsen the condition of the patient. Numerous methods were developed for iatrogenic lung collapse t hat were practised up until the advent of anti-tuberculosischemotherapy in the mid-1940s. (a) Thoracoplasty This was the surgkal removal of several upper ribs in order to collapse the lung (predominantly upper lobes).An average patient required the removal of 7--8 ribs, and most surgeons preferred to remove only 2- 3 ribs at a time.Thus patients had to endure several procedures before the entire :horacoplasty was completed. (b) Plombage therapy This involved the insertionof a 'plombe' into the extra-pleural space to collapse the upper lobes. They included fat (taken from elsewhere in the body), solid paraffin wax, lucite spheres, plastic ping pong balls, sponges of inert plastic material. and oleothorax (oil in the pleural cavity). Patients often have a thoracotomy scar and clinical findings resemble that of a patient with previous lobectomy. (c) Artificial pneumothoraces Air was introduced into the pleural cavity on the affected side causing collapse of the affected lung.The result of recurrent pneumothoraces often resulted in pleural thickening and a reduced volume of lung on the affected sTde. (d) Phrenicotomy (phrenic nerve crush) This led to unilateral diaphragmatic paralysis and the lung remained in a relaxed phase higher in the chest. (e) Postural rest The patient lies on the affected side, which restricted. lung movement thus inducing partial rest. (f) 'Shot bag' method A bag containing one pound of shot was placed on the clavicle of the patient on the affected side.The weight would be increased by 5 ounces each week until the patient would be carrying 5 pounds of weight o n the upper part of the lung.This restricted lung movement and induced partial rest, allowing it to heaL What is the definition ofmulti-drug resistant tuberculosis (MDR TB)? This refers to M. tuberculosis that is resistant to at least two different drugs, usuatty isoniazid and rifampicin. How would you treat pulmonary tubercr.losis? All newly diagnosed cases of tuberculosis should be treated w ith rifampicin, isoniazid. pyrizinamide, and ethambutol for 2 months followed by rifampicin and isoniazid (4 months). The principles for treating MDRTB are to use bactericidal drugs not previously used and to which the organism is sensitive.The duration oftreatment depends on the response. In general, treatment with at least 3 different drusr-; should be continued until the.sputum culture becomes negative, and then a regimen or at least 2 different drugs should be continued for 12-24 months. 79 87. RESPIRATORY SYSTEM Figure 17.1 An X-ray of a patient with previous left thoracoplasty. Note the rib resections superiorly resulting in marked chest deformity. - . In the current era, what is the role ofsurgery in the treatment oftuberculosis? Surgical resection of the infected lung is only considered in the context of MDR TB to reduce the bacillary burden. Procedures used include segmentectomy, lobectomy, and pneumonectomy. Case 18 + Lung Consolidation . CASE PRESENTATION 1 This patient is breathless at rest and has a productive cough with purulent sputum.1 The fmgers are not clubbed. There is no evidence ofnicotine staining.> The venous pressure is not elevated.1 There are no palpable lymph nodes. The trachea is central and the cricoid-notch distance is not reduced.5 There is reduced chest expansion in the left lower zone. The percussion note is dull at the /eft bose where there is increased vocal resonance. coarse crepitations. bronchial breathing, and a pleural rub. There is no peripheral oedema.' There ore no signs ofpulmonary hypertension.8 The clinical signs suggest left basal consolidation. The presence ofa productive cough with purulent sputum would suggest an underlying bacterial pneumonia.9 . ---------------- 80 88. ~ t I r CASE 18 LUNG CONSOLIDATION CASE PRESENTATION 2 This cochectlc patient has a productive cough and is breathless at rest1The (1ngers are clubbed. There is nicotine staining o( the {1ngers.l The venous pressure is not elevatedJ There is a palpable lymph node in the right supraclavicular (ossa. The trachea is central and the cricoid-notch distance is not reduced.5 There is reduced chest expansion in the right lower zone. The percussion note is dull at the right bose where there is Increased vocal resonance, coarse crepitations, bronchial breathing, and a pleural rub.6 There is no peripheral oedema.7 There are no signs ofpulmonary hypertensions The clinical signs suggest right basal consolidation. The presence ofcachexia, fmger dubbing, nicotine staining, lymphadenopathy, and a productive cough would suggest underlying molignancy.9 CASE PRESENTATION 3 .This patient is breathless at rest1The fingers are not clubbed. There is no evidence ofnicotine staining.1 The venous pressure is elevated.1 There are no palpable lymph nodes! The trachea is central and the cricoid-notch distance is not reduced.5 There is reduced chest expansion in the left lower zone. The percussion note is dull ac the left base where there is Increased vocal resonance, coarse crepitations. bronchial breathing. and a pleural rub6 The right calfis swollen and tender (suggesting venous th!tJmbosisJ-1 There ore signs ofpulmonary hypertensions The clinical signs suggest left basal consoUdotlon. The presence ofpulmonary hypertenSion and clinical evidenc~ofvenous thrombosis suggests pulmonary inforctlon (embolism) as the underlying cause.9 Clinical notes When considering lung consolidation, it is important to remember the 3 principal causes: pneumonia, malignancy, and infarction. Once having established a diagnosis of consolidation, use other clinical signs, to find the underlying cause. 1. Assess functional status. Patients with consolidation in the examination setting will often be breathless. Those with bacterial pneumonia may have pyrexia.Ask for a cough. Bacterial pneumonia or malignancy is associated with purulent sputum +/- haemoptysis. Examine the sputum pot if present. In patients with pulmonary infarction, fever is less prominent. and occasionally there may be a productive cough with mucoid sputum and haemoptysis. 2. Examine the hands carefully.The presence of clubbing will suggest underlying malignancy. Nicotine staining will suggest smoking, which is a strong risk factor for malignancy. 3. An e levated venous pressure has many causes, but if present in the context of consolidation, should suspect one to consider pulmonary infarction. Oth7mmoVL Respiratory rate ~30/minute Blood pressure (systolic) UL)* Pneumothorax (Ul>ll) Large emphysematous bulla Malignancy loculated pleural effusion ARDS Radiation pneumonitis Blunt chest trauma PE Pneumonia Post-operative Smoke inhalation Interstitial lung disease Granulomatous lung disease Necrotizing pneumonia Asbestos pleural plaques 102. l CASE 22 SUPERIOR VENA CAVA OBSTRUCTION Case 22 SuperiorVena Cava Obstruction CASE PRESENTATION This cachectic patient is breathless at rest' The pulse is regular.2 The fingers are clubbed. There is nicotine staining ofthe ftnger.s3 The upper limbs and face are oedematous, plethoric. and cyanoseest findings can be variable.There may be none. An example of a right pleural effusion is given in the above case. Lower limb oedema is not usually a feature of SVC obstruction, and is often seen with inferior vena cava obstruction. In certain ~es of right atrial masses or tumours and central venous thrombosis, the obstruction may involve both superior and inferior vena cava. Peripheral oedema may be present in patients with malignancy and cachexia, reflecting poor nutritional state, hypoalbuminaer.nia state. or nephrotic syndrome (membranous glomerulonephritis). 95 103. RESPIRATORY SYSTEM 11. Onceconfirming.the diagnosis, try to .give a passibl.e cause.The diagnosis of malignancy is quite clear in this example. Don't forget to provided additional diagnoses if present, i.e. pleural effusion, Pancoast syndrome, collapse. or consolidation. Questions commonly asked by examiners Whcrr are the symptoms ofSVC obstruction? Dyspnoea .Headache Nasal stuffiness Head, facial, and arm swelling Visual disturbance Dysphagia Dizziness NB. Symptoms increase on bending forward,lying down, or coughing. What are.the causes ofSVC obstruction? Malignancy Lymphoma (NHL>H~ especially large.cell type) . Bronchial carcinoma (especially SCLC) Leiomyosarcoma of mediastinal vessels Plasmacytoma . Mediastinal goitre Thoracic aortic aneurysm Mediastinal fibrosis Benign mediastinal masses Teratoma Thymoma Cystic hygroma Dermoid cyst Infections Histoplasmosis Syphilis Tuberculosis ..Actinomycosis Vasculitis Central venous thrombosis Thrombophilic disorders Complication of central venous catheters Right atrial tumours (i.e. myxoma) What is the management? The aims are to relieve symptoms and treat primary pathology. i.e. malignant tumour. Conservative treatment . Elevation of head Spedfic treatment Steroids and diuretics if cerebral or. laryngeal oedema 96 104. tL I II, ~ lI I CASE 23 STRIDOR Radiotherapy (NSCLC or lymphoma)* Chemotherapy (SCLC)* Thrombolysis or anticoagulant therapy (central venous thrombosis) Percutaneous SVC stenting- What is the prognosis in these patients? Benign SVC obstruction: no effect on prognosis Malignant SVC obstruction: survival correlates with tumour histology Case 2[3 CASE PRESENTATION This cachectic patient is not breathless at rest' There are loud, high-pitched sounds with each inspiration that can be heard from the end of the bed.2 There is no evidence ofcyanosis. The fingers are clubbed. There is nicotine staining ofthe fmgers.1 The venous pressure is not elevated. There are palpable lymph nodes in the right supraclavicular fossa.< There are no neck mo.ss"es or scars.5 Exami&lation ofthe oropharynx is unremarkable. The trachea is central and the cricoid-Qotch distance is not reduced.' On examination ofthe chest there are no scars. Perr:uss1on note and vocal resonance is normal. Auscultation reveals vesicular breath sounds and no added breath sounds.8 There is no peripheral oedema. This patient has Inspiratory stridor, which implies extrathoraOiysaccharidoses Fabry's diseasl! Methysergide therapy Whipples disease What other conditions could give a mid-diastolic rumbling murmur? left atrial mass (typically myxomas) Left atrial thrombus Cor triatriatu!ll' Severe mitral regurgitation (inc;:reased forward flow across the mitral valve) What is the pathophysiology of01itral stenosis? The normal area of the mitral valve orifice is ~m1 Narrowing of the valve area to less tha~ 2.Scm1 impedes the free flow of blood between the left atrium (LA) and left ventricle and increases left atrial pressure.This is required to maintain transmitral flow volume. Critical mitral stenosis occurs when the opening is reduced to 1cm2 .At this stage, a left atrial pressure of 25mmHg is required to maintain a normal cardiac output.With progres- sive stenosis, critical flow restriction reduces cardiac output.The left atrium enlarg~s and pulmonary venous and capillary pressures increase.The resulting pulmonary congestion and reduced cardiac output can mimic primary left ventricular failure. but left ventricular contractility is normal in most cases of mitral stenosis. As the disease evotves, chronic elevation of left atrial pressures leads to pulmonary hyperten- sion. tricuspid and pulmonary valve incompetence, and secondary right heart failure. How do you classify the severity ofmitral stenosis? The severity can be classified according to mitral valve area: Mild: >1.5 em> Moderate: Severe: 1-1.5 cm2 hera( o.idema. . _ This patient has had a mitral valvotomy for mitral stenosis in the past followed by mitral valve replacement. which appears tD be functioning well. The opening and closing clicks would suggest this is a Start-E.ifwards (BaU and Cage) prosthesis. There are signs ofpulmonary hypertenslon.12 CASE PRESENTATION 3 There ore no peripheral stigmatao(endacarditis.' The pulse rote is ...beats/min. regular/irregular, .. . volume, and .. .character.2 The blood pressure is ...I:..mmHg. There is no evidence ofanaemia.3 The venous pressUre Is elevated with systolic V waves! A prosthetic click can be heard with the unaided ear, which coincides with the first heart sound.5 On exam ination ofthe precordium there is a mid-line sternotomy SCC(r.6 ~apex t>eat is displaced.' The(!? is 0 parasternal heave and a parastemc;rl thriiL8 On auscultation. there is a prosthetic cUck at the first heort sound and the pulmonary component of.the second heari sound iS loud.9 ' 0 'f!lere is a .pansystol!c murmur at the lower left sternal edge. louder In lns,iration.II The lung fields qre clear to.auscultation and there is 'peripheral oedema. This patient has hod a mitral valve replacement, which appears to be {Uryctioning well. There are signs ofpufmonory hypertension-'Z CAS-E PRESENTATION 4 There ore no peripheral stigmaw ofendocarditis.' The pulse rote is .. .beats/min, regular/irregular, ... volume. and ...charocter.2 The blood pressure is ... /...mmHg. There is no evidence ofanaemia.1 The venous pressure is not elevated. A prosthetic click con be heard with the unaided ear, which coincides with the first heart sound.5 On examination of the precordium there is a mid-line sternotomy scar.6 The apex beat is displaced with a thtVsting character.' There is a parasternal heave but no ihrills.8 On auscultation, there is a prosthetic dick in the first heart sound ond the pulmonary component ofihe second heart sound is loud.910 Thereis a pansystollc murmur at the apex, which is louder in_expiration, and, radiates to the axilta.'' On ousculmtion of r.he lung felds, there are bibosal - crepit~tions. There is perlpheraf oedema. 122 f'< 127. CASE 27 PROSTHETIC MITRAL VALVE This patient has had a mitral valve replacement, and the munnur afmitral regurgitation suggests it is leaking. There are signs ofpulmonary congestion and pulmonary hypertension.12 Clinical notes 1. Always mention presence/absence o f signs of endocarditis in any patient with a prosthetic valve. More than often, they are absent--ben this is an important negative finding. . 2. Patients with mitral valve disease are more likely to be in AF. Look for an irregular pulse.Sometimes an irregular pulse may be difficult to ascertain. especially if bradycardic.The pulse volume is often variable in AF. 3. Anaemia is an important complication to look for in patients with prosthetic valves.This can occur seex. but may be felt throughout the precordium. Pulmonary hypertension is associated with functional tricuspid regurgitation,which is associated with a parasternal thrill. Differentiating bot h thrills is clinically difficult. In examination settings. if a thrill is palpated and there are signs of mitral and tricuspid regurgitation. the n It is best to refer to it as 'a precordial thrill'.Trying to differentiate between thrills of mitral and tricuspid regurgitation can cause confusion, and Is best avoided in the examination. 7. A soft first heart sound Is a marker of severe mitral regurgitation. 8. The pulmonal"y component ofthe second hear~ ~ound will be loud in the presence of pulmonary hypertension. If present, then make sure other signs of pulmonary hype rtensio n are sought for. Se ve re mit ralregurgitation i.s associated with wide splitting of the second heart sound.This is due to a high proportion of the stroke.volume (the regurgitant volume--can be up to 60%. of t he stroke volume in severe mitral regurgitation) being emptied into the left atrium- as opposed to aorta, thus a reduced .125 130. CARDIOVASCULAR SYSTEM -------------- ----------------------- 9. A third heart sound occurs in mitral regurgitation due to rapid ventricular filling (increased left ventricular preload secondary to the mitral regurgitant volume from the previous cardiac cycle), and does not necessarily signify left ventricular dysfunction. A third hear-t sound can be used as a sign o f severe m itral regurgitation. but it must be inter-preted w it h other signs o f severity.A third heart sound alone in the absence of other signs of severity do es not itself imply severe mitral regurgitation.A fourth heart sound (if In sinus rhythm) is also a marker of severe mitral regurgitation. 10. The murmur of mitral regurgitation is pansystolic.ln severe mitral regurgitation. one can often hear a soft and ~hort mid-diastolic flow murmur at the apex, i.e. increased flow across the mitral valve.This signifies increased left ventricular filling secondar-y to increased left ventricularpreload secondary to the mitral regurgitant volume from the previous cardiac cycle.When mitral regurgitation is functional, i.e. secondary to left ventricular dilatation as a result of impaired left ventricular function. the murmur may be mid, late, or pansystolic. Other causes of short systolic mu murs at the apex Include m itral valve prolapse and papillary muscle dysfunction.These munnurs may not radiate to the axilla, but often radiate up the left sternal edge. 11. This is the murmur of'functional' tricuspid regurgitation.This murmur Is louder in inspiration (Carvallo's sign) and may be associated with a parasternal thrill.There will be systolic V waves in the venous pressure, as would other signs of pulmonary hypertension. Mitral regurgitation will initially lead to pulmonar-y venous hypertension, pulmonar-y congestion, and then pulmonar-y arterial hypertension, and right-sided cardiac failure. In the presence of signs of pulmonar-y hypertension, look carefully for b ibasal crepitations (pulmonary congestion) and peripheral oedema.The lung fields can be clear, and peripher-al oedema can be minimal especially if the patient is on diuretics. Listen carefully for the Graham-Steel! murmur of pulmonary regurgitation if other signs of pulmonary hypertension are present. 12. In the context of severe mitral regurgitation. one would usually expect pulmonary congestion and peripheral cedema. It is important to remember that such patients can have clear lung fields ana may appear e uvolaemic if on diuretic therapy.Thus, the absence of pulmonary congestion and peripheral oedema in the presence of other signs of severity should not preclude one from making the diagnosis of severe mitral regurgitation. 13. Having given a diagnosis of mitral regurgitation. it is important to comment on evidence o f previous mitral valvotomy. the absence or presence of pulmo nary hypertension and the severity o f mitral regurgitation (see below). Questions commonly asked by examiners What are the causes ofmitral regurgitation? Chronic mitral regurgitation 126 Rheumatic fever Mitral valve pr-olapse Infective endocarditis Left ventric ular dilatation (functional mitral regur-gitation) Marfan's syndrome Ehlers Danlos Syndrome Pseudoxanthoma elasticum Osteogenesis imperfecta Rheumato id arthritis SLE (Ubman-Sachs endocarditis) Papillary muscle dysfunctio n (ischaem ia or degene rative diseases of the c ho rdae) Mitral annular calcification Cardiomyopat hies (restrictive, hypertrophic. and d ilate d) 131. CASE 28 MITRAL REGURGITATION Acute mi_tral regurgitation Infective endocarditis Rupture of chordae teridinae (infective endocarditis, acute rheumatic fever. and ischaemia) Trauma What is the mechanism of'functiQnal' m;tral regurgitation? Functional mitral regurgitation refers to mitral regurgitation as a result of left ventricular dilatation secondary to impaired left ventricular systolic function. Left ventricular dilatation can lead ~o dil;l1:atlon of the mitral valve annulus and lateral displacement of papillary muscles, which give rise to a regurgitant mitral valve. {hat are the clinical signs ofsevere mitral regurg;tation? Soft first heart sound Third heart sound Fourth heart sound (if in sinus rhythm) Displaced apex beat (sign of left ventricular enlargement) Precordial thrill Mid-diastolic flow murmur Widely split second heart sound Signs of pulmonary hypertension Signs of pulmonary 25mmHg at rest. What are the causes ofsecondary pulmonary hypertension? (a) Increased pulmonary venous pressure Left ventricular systolic or diastolic dysfunction Mitral valve disease Aortic valve disease Veno-ocluslve disease (autoimmune disease) (b) Decreased area of pulmonary vascular bed Thrombo-embolic disease Interstitial lung disease Collagen vascular diseases Obstructive airways disease (c) Chronic hypoxia Chronic airways disease Interstitial lung disease Obstructive sleep apnoea Obesity-hypoventilation syndrome High altitude Neuro-muscular disease (poliomyelitis, Guillian-Barre syndrome and myasthenia gravis) Kyphoscoliosis (d) Lett-to-right shunt Atrial septal defect Ventricular septal defect What do you know about primary pulmonary hypertension? 144 A rare disease with an incidence of 2 per million (1% of all cases of pulmonary hypertension) A disease of children and young adults (female:male = 2:1) Characterized by pulmonary hypertension in the absence of any demonstrable cause. One in ten cases are familial Associated with connective tissue disease, vasculitis, and HN infection Also assoCiated with the use of appetite suppressants, e.g. fenfluramine Untreated, the median survival Is 3 years. 149. CASE 33 PULMONARY HYPERTENSION How would you investigate a patient with pulmonary hypertension? Investigations in patients with pulmonary hypertension (a) help confirm diagnosis and severity of pulmonary hypertension, and (b) confirm the absence or presence of an underlying cause. ECG Right ventricular hypertrophy Right ventricular strain Right atrial hypertrophy (P pulmonale) Incomplete or complete right bundle branch block In addition, look for: Left atrial hypertrophy (bifid P waves in H)-suggestive of mitral valve d sease Left :.trial dilatation (biphasic P wave in V,)-suggestive of mitral valve disease Left ventricular hypertrophy +/- strain- suggestive of hypertensive heart disease or aortic valve disease Myocardial ischaemia"-suggestive of left ventricular systolic dysfunction Arterial blood gas sampling Type 1 respiratory failure (p01 < 8.0 and pC01 < 6.0) Type 2 respiratory failure (p01 < 8 .0 and pC01 > 6.0) CXR Classical findings of pulmonn hypertension are: Prominent pulmonary vasculature (enlargement of central pulmonary arteries) Attenuation of peripheral vessels Oligaemic lung fields In addition, look for: Cardiomegaly and/or pulmonary congestion-suggestive of left ventricular dysfunction Hyper-inflated chest and bullae-suggestive of obstructive airways disease Reticulo-nodular shadowing and honeycomb appearance-suggestive of interstitial lung disease Echocardiogram Signs of chronic right ventricular pressure overload (right ventricular hypertrophy and paradoxical systolic bulging of septum into left ventricle on short axis views) Signs of chronic volume overload (right ventricular dilatation with diastolic splinting o f septum, giving the impression of D-shaped left ventricle on short axis views) Right ventricular size and function (right ventricular hypertrophy or dilatation) Degree of tricuspld regurgitation Pulmonary artery systolic pressure T wave inversion. ST depression, biphasic T waves, poor R wave progression, Q waves, and left bundle branch block. Trkuspld regurgitation 1s present in more tnan 90% of p.. nts with severe pulmonary hypertension. and can be used to estimate pulmonary artery pressures (greater than 9S% correlation with pressures measured using cardiac catheten:z.atlon). Pulmonary artery systolic pressures can be est1mated from the velocit ies of even the smallest trlcusp1d regurgitation jets). 145 150. CARDIOVASC~LARSYSTEM In addition look for: Left ventricular systolic and diastolic function Valvular heart disease lntracardiac shunts CT pulmonary angiogramN-Q (ventilation-perf~sion) scan To demonstrate chronic thromboembolic disease Diffuse mottled perfusion can be seen in primary pulmonary hypertension (as oppos~d to segmental or sub-segmental mismatched defects observed in secondary pulmonary hypertension) Lung function tests May demonstrate obstructive or restrictive patterns in chronic respiratory disease Diffusion capacity is.universally reduced in pulmonary hypertension High resolution CT chest To demonstrate interstitial lung disease Right and left heart catheterization Right heart catheterization is the standard test for diagnosis, quantification, and characterization of pulmonary hypertension Can be used to further assess right heart and pulmonary artery pressures (especially if difficult to measure from echocardiography) Can measure cardiac output and pulmonary vascular resistance Can conduct vasodilator trials to assess acute response to short-acting vasodilators Can measure saturations of blood in the right and left heart. thus detection of shunts How do you treat secondary pulmonary hypertension? Treat underlying cause Diuretics for congestive symptoms Long-term oxygen therapy Anticoagulation Vasodilator therapy (see below) . How do you treat primary pulmonary hypertension? Diuretics Help with congestive symptoms Reduce preload in patients with right heart failure. Anticoagulation Warfarin is the oral anticoagulant of choice. to achieve and INR = 2-3.Antlcoagulation nearly doubles the 3-year survival rate. Prostacyclin, inhaled nitric oxide and adenosine.An acute response often predicts a beneficial effect from oral vasodilator therapy. The role of anticoagulation is not established in secondary pulmonary hypertension, unless there js thrombo-embolic or pulmonary veno-occlusive disease. 146 151. CASE 34 VENTRICULAR SEPTAL DEFECT Vasodilator therapy (a) Caldum channel blockers. Nifedipine and diltiazem are used.Those who respond to calcium channel blockers have a 5-year survival rate of 95%. They should not be used in patients with overt right heart failure. (b) Prostacyclin analogues. Short acting vasodilators and inhibitors of platelet aggregation. Can be administered intravenously, subcutaneously or in a nebulized formulation. Due to its short half-life. infusions have to be given continuously through a tunnelled central venous line. Epoprostenol (Fiolan) and Treprostinil (Remodulin) are intravenous preparations. lloprost (Ventavis) is a nebulized inhalation. (c) Adenosine infusion (d) Nitric oxide inhalation (e) Nitrate infUsions (f) Phosphodiesterase-S int:ititors, e.g. sildenafil (g) Endothelin antagonists. Oral endothelin antagonists include bosentan and ambrisentan. Surge ry (a) Atrial septostorny. A palliative procedure by creation of right-to-left shunt.This has been shown to improve forward output and alleviate right heart failure. Atrial septostomy provides a low-resistance channel,thereby decompressing the right atrium and improving filling of the left side of the heart.Although the blood delivered to tissues has a lower overall saturation, the oxygen content delivered to tissues is increased. (b) Transplantation. Lung transplantation and co mbined heart-lung transplantation are associated with similar survival rates. Lung transplantation can comprise single or double lung transplantation. Even a markedly depressed right ventricle improves considerably after single or double lung transplantation. Case .34 Ventricular Septal Defect CASE PRESENTATION There are no peripheral stigmaco ofendocarditis. There is no evidence ofclubbing or cyanosis.' The pulse rate is .. .beats/min, regular/irregular. ofnormal volume and character.2 The blood pressure is .. .I... mmHg.J The venous pressure is not elevated! On examination ofthe precordium. there ore no scars. There are no heaves.5 There is a parasternal thrill6 The apex beat is undisplaced.' On auscultation the (trst and second heart sounds are norma/.8 There is a ioud (harsh) pansystolic murmur heard throughou~ the precordium. loudest at the lower left sternal edge.9 The lung (telds are dear to auscultation and there is no sacral or pedal oedema.'0 The diagnosis is a ventricular septal defect with a left-to-right shunt. The absence ofclinical signs of pulmonary hypertension and left ventricular enlargement would suggest that this is a haemodynamically insignificant shunt'' 147 152. CARDIOVASCULAR SYSTEM Clinical notes 1. These are important negatives. Endocarditis is a recognized complication of ventricular septal defect (VSD).AVSD is associated with a left-to-right shunt.As the shunt becomes haemodynamically significant, pulmonary hypertension develops. In advanced cases, with increasing pulmonary artery pressures. the left-to-right shunt will reverse resulting in an Eisenmenger's syndrome.This would then be associated with cyanosis and dubbing. 2. The pulse is usually of normal volume and character. 3. The blood pressure is usually normal with a normal pulse pressure. 4. Look for signs of pulmonary hypertension, as the presence of pulmonary hypertension would place a VSD in the haemodynamicatly significant category. if venous pressure is elevated, then be sure to look for and not to miss other signs of pulmonary hyp rtension: parasternal heave and thrill and a loud pulmonary component to the second heart sound. 5. Do not miss signs of pulmonary hypertension.A parasternal heave reflects right ventricular pressure overload.A parasternal thrill reflects 'functional' tricuspid regurgitation. 6. A prominent systolic parasternal thrill is felt with a left-to-right shunt.With the development of pulmonary hyperten~ion, shunt reversal and Eisenmenger's syndrome, If a parasternal thrill is felt, it Is unlikely to represent the right-to-left shunt flow across the VSD and is more likely to represent 'functional' tricuspid regurgitation secondary to pulmonary hypertension. In this situation. you would expect to see systolic Y waves in the venous pressure waveform. 7. With a haemodynamically significantVSD, left ventricular volume overload will result in left ventricular dilatation and a displaced ana thrusting apex beat. 8. With pulmonary hypertension. you would expect a loud pulmonary componeut to the second heart sound. 9. With small. restrictive, and haemodynamically insignificant defects, the heart sounds are normal and the murmur is often very loud and can be heard all over the precordium, being loudest at the lower left sternal edge.The second heart sound is normal with small defects. Occasionally, a defect may close during contraction in systole and the resulting murmur may not span the entire of systole.With the development of pulmonary hypertension. shunt reversal, and Eisenmenger's syndrome. the murmur diminishes and disappears as pressures in the left and right ventricles equalize. In this case, a single (and often loud) second heart sound indicates equalization of ventricular pressures.At this stage, a pansystolic murmur at the lower left sternal edge is likely to represent functional tricuspid regurgitation secondary to pulmonary hypertension.This murmur will be louder in inspiration (Carvallo's sign). In large defects, a large left-to-right shunting will be associated with increased pulmonary blood flow into the left atrium resulting in increased flow across the mitral valve. This can often produce short mid-diastolic flow murmurs at the apex. Such mitral diastolic flow murmur would suggest pulmonary:systemlc flow 2: 2 (see below for significance). 10. The presence of pulmonary congestion would signify impaired left ventricular function secondary to volume overload.The presence of peripheral oedema would signify pulmonary hypertension and right-sided cardiac failure. 11. It is important not only to state the diagnosis, but also to (a) establish the direction of shunt and (b) haemodynamic significance.The presence of cyanosis will suggest a right-to-left shunt.The presence of pulmonary hypertension, left ventricular enlargemerttldysfunction or increased flow across the mitral valve (mid-diastolic flow murmur at the apex) will suggest a VSD is haemodynamically significant. The following table summarizes the signs associated with haemodynamically insignificant and haemodynamically significantVSDs.A haemodynamically significantVSD in its extreme form is associated with shunt reversal, i.e. Eisenmenger's syndrome (right column in table). 148 153. CASE 34 VENTRICULAR SEPTAL DEFECT Haemodynamic significance ofVSD Insignificant Significant Significant Defect Samll(L~R) Large (L~R) Large (R~L) .Clubbing No No Yes Cyanosis No No Yes VSD murmur Loud Less loud No Apex Normal Displaced and thrusting Displaced and thrusting Pulmonary hypertension No Yes Yes sl ~-Pl ~-P2 (loud P2r Single loud 52 ' In larger left-to-right shun.:s, there is increased blood passing into the right heart across the VSD and less blood crossing the aortic valve into the aorta.Thus RV emptying occurs later and LV empty- ing occurs earlier:This may give rise to a widely split second heart sound. In practice, due to the louc~ nature of the murmur throughout the precordium, this may not be easy to detect and appreciate. Questions commonly asked by examiners What are the causes ofa ventricular septal defect? C ongenital Maternal factors Maternal diabetes Maternal phenylketonuria Maternal alcohol consumption (fetal alcohol syndrome) Aneuploid syndromes Down's syndrome (Trisomy 21) Edward's syndrome (Trisomy 18) Patau's syndrome (Trisomy 13) Di George syndrome (Deletion 22q11) Deletions 4q, Sp, 21, and 32 A cquired Ischaemia (post myocardial infarction) Iatrogenic (RV pacing with septal puncture, complication of alcohol septal ablation) How are such ventricular septal defects classified? Perimembranous (infra-crista!, conoventricular) This is the most common type, accounting for 80% of all VSDs. Occu:- in the membranous septum, and lie in the LV outflow tract just below the aortic valve These can also cause LY- RA defects (Gerbode defect) These defects are associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may cause partial or complete occlusion of the defect Supra-crista! (conal septal, infundibular, subarterial, outlet) Account for 5-8% of all VSDs. The crista supraventricularis is a muscular ridge that separates the main right ventricular cavity fror.1.t.: infundibular or outflow portion 149 154. CARDIOVASCULAR SYSTEM lie beneath the pulmonary valve, and communica~e with RV o utflow tract, above the crista supraventricularis C an be associated with prolapse of right coronary cusp of the aortic valve and aortic regurgitation. Muscular (trabecular) Acco unt for 5- 20% of allVSDs Occur in the muscular septum Posterior (canal type, endocardial cushion type,AV septum type, inlet) Account for 8- 10% of allVSDs Ue posterior to the septal leaflet of the tricuspid valve . Although located in the same place asVSDs observed with AV septal defects, they are not associated with tricuspid o r mitral valve defects. Are ventricular septal defects always assodoted with 'entricular-to-ventricular shunts? Alth~ugh ventricular septal defects result in a communication between the left and right ventricle. occasionally perimembranous defects-can result in a left ventricle to right atrium shunt (Gerl:>ode defect). What ore the complications ofventricular septal defects? Infective endocarditis Pulmonary hypertension- Left ventricular dysfunction Aortic regurgitation (perimembranous or supra-crista! defects) Ventricular arrhythmias Eisenmenger's syndrome r:an ventricular septal defects close spontaneously? Spontaneous closure of small defects occurs in approximately SO% .of patients,often in early childhood (by 2 years of age). C losure is uncommon after 4 years of age.This is most ft-equently observed in muscular (80%) followeC: by perimembranous (35-40%) defects. O utlet defects have a low incidence of spontaneous closure and inlet defects never close ~pontaneously. What is the mechanism ofspontaneous closure? Hypertrophy of the muscular septum (most common) Formation of fibrous tissue Subaortic tags Apposition of septal leaflet of tricuspid valve (perimembranous defects) How would you investigate this patient? CXR 150 Small defects Normal heart size and pulmonary vascular markings Larger defects (with development ofpulmonary hypertension) Cardiomegaly Increased pulmonary vascul2r markings with pron-inent r:-1a;r pulmo nar:r y: 1. Increased right heart volumes, thus it takes longer for right heart to empty (P2 occurs later) 2- Less blood in left heart. thus the left heart will empty quicker (A1 occurs earlier) 3. WithA SD.there is equalization of RA and LA pressure,thus the effect of respiration in altering right ventricular volumes is lost.This results in a FIXED WIDELY SPLIT 51 . What ore the causes of'!tfidely split second heart sound? Atrial septal defect Ventricular septal defect Mitral regurgitatio n Pulmonary stenosis Right bundle branch block What ore the complications ofan ASD? Atrial arrhythmias (AF is the most common) Pulmonary hypertension Eisenmenger's syndrome Paradoxical embolism Infective endocarditis Recurrent pulmonary infectio ns In on asymptomatic patient what would the onset ofatrial arrhythmias signify? Usually patients remain in sinus rhythm in the first three decades. Chronic atrial dilatation provides a substrate for atrial arrhythmias.The onset of atrial arrhythmias (AF and flutter) is o ften accompanied by the_onset of t ricuspid regurgitation secondary to pulmonary hypertension. Whatother condition is associated with sinus venosus defects? These defects are associated with anomalous pulmonary venous drainage.with the right upper pulmonary vein emptying directly into the SVC. Less commonly, it may drain into the inferior vena cava. 154 159. CASE 35 ATRIAL SEPTAL DEFECT What is a patent foramen ovate? A patent foramen ovale (PFO) is a remnant of the fetal circulation. During fetal life, oxygenated placental blood enters the right atrium via the inferior vena cava and crosses the foramen ovate to enter the systemic circulation. At birth the pulmonary vascular resistance and right heart pressures drop. with reversal of pressure gradient and flow across the foramen ovale.This causes the flap of the foramen ovate (septum primum) tci d ose against the atrial septum (septum secundum), with fusion usually occurring in the first two year.; of life.This 'fusion' is incomplete in 25-30% of people, resulting in an o blique slit-like defect.This is termed a PFO, and functions as a valve-like structure with the 'door-jam' on the left atrial side of the atrial septum. What is the main difference between a patent foramen ovate and ASD? u,1like an ASD, a PFO does not allow equalization of atrial pressures. What clinical sequelae ore associated with patent foramen ovate? In the absence of cardio-respiratory disease, a PFO is usually associated with left-to-right flow across the defect. Right-to-left blood flow only occurs when right atrial pressure exceeds left atrial pressure. Causes include: Inspiration' Valsalva release manoeuvres: e.g. coughing or straining Pulmonary hypertension Acute pulmonary embolism (PE) Right ventricular infarundle branch block Left axis deviation (Ostium primum defects) .Right axis deviation (Ostium secundum defects) Inverted P waves in inferior leads (sinus venosus defects) Right ventricular hypertrophy Right atrial hypertrophy (P pulmonale) Left atrial enlargement (Biphasic P waves in V1 -V2 ) Echocardiogram Location, size and direction of shunt Right ventricular size and function Pulmonary artery systolic pressure Pulmonary:Systemic flow (QP:Q, ratio) Cardiac catheterization This is often unnecessary given the diagnostic accuracy of echocardiography. but can determine the magnitude and direction of shunting and determine the severity and reversibly of pulmonary hypertension. How would you manage this patient? Small defects with normal pulmonary artery pressure Re-assurance Encourage living a normal life Larger defects with pulmonary hypertension/right ventricular failure/left ventricular failure Diuretics for congestive symptoms Treatment of pulmonary hypertension ASD closure (surgical or percutaneous) if no contraindications What are the indications for ASD closure? Increasing pulmonary:systemic blood flow (QP:Q, > 2:1) Is the development of Eisenmenger's syndrome always a contraindication for ASD closure? The development of severe pulmonary hypertension is associated with shunt reversal and development of Eisenmenger's syndrome. If the pulmonary hypertension is irreversible, then Due to limitation of transthoracic echocardiography, t ransoesophageal echocardiography may be necessary to identify atrial defects as well as anomalous pulmonary venous drainage. 156 161. CASE 36 COARCTATION OF THE AORTA closure is contraindicated. However; if one can demonstrate reversible pulmonary hyperte nsion, then closure may be undertaken: Evidence of pulmonary reactivity with a pulmonary vasodilator challenge Lung biopsy findings consist with reversible pulmonary arterial changes Case 36 Coarctation of the Aorta CASE PRESENTATION 1 On examination, the upper torso is better developed than the lower torso.' There ore no peripheral stigmata ofendoearrfrtis.2 The radial pulses ore equal biloterolly.3 There ore vigorous carotid pulsations in the ned...- stgns of pulmonary hypertenSIOn: parast.ernal heave and thrill and a loud pulmonary component to the second heart sound 5. Do not mtSS sims of pulmonary ~on.A par;t.stemal ~ewe reflectS right ventricular pressure overload.A parasternal thrll~ If present. refleas 'functional' tricuspid regu~tion. 6. This thrill is often felt best on the anterior chest wall. below the left clavicle. It reflects flow through the shunt. 7. A POA Is associated witloleftto-right shunt from the aorta to the pulmonary artery.Thus there is vo:uone overload In the pulmonay c.lrculation ..nd In the left hurt. which receive:; 'the oncreased blood volume.As the POA becomes haemodynamically significant, the left ventricular dimensions increase, with a displaced and thrusting apex beat. 8. On auscultation, the fint heart sound Is normaLAlthough me second heart sound Is often obscured by the murmur, It will be loud in the presence of pulmonary hypertension (loud P1 ). Large haemodynamically sl&nificant shunts ;are associated with reversed splitting ol the second heart sound (may not be easy to a~te as thos Is obscured by the murmur).The classical murmur is often referred to as a 'continuous machinery murmur'.;ond may have systo1k accentuation.This Is the Gbsot1 murmur The murmur begins after the forst heart sound and peaks at the second heart sound. after whoch It trals off. It Is best heard at the upper left st...-nal edge or left subcbviaJI.ar area.The narrower the shunt.the louder the mutTnUT.The murmurcan span the whole ofsystole and doastole. bo,a may occur at the Ia~ pvt of systole and early part ofdlan.ole. Son-..mes, In young children, it may occur as a crescendo murmur In late systole. In a tar&e haemodynamially slgnifiant POA.where pulmonary.aortic flow is >2:1, a tow-frequency mid- diastolic now murmur may be heard n the apex due to oncreased flow across the mrtnl valve.With pulmonary hypertension.the diastolic then me systolic component becomes shorter- and softer It is then that the rever-sed splitting of the second heart sound may be easier to ;appreciate. Someomes the murmur of a POA can be confused with pulmonary stenosis. It ls lmportam to remember. unlike the murmur of pulmonary stenosis,the murmur of POA is heard equally as loud posteriori)'. 9. The presence of pulmonary congestion would signify Impaired left ventrocular function secondary to volume overload.The presence ofoedema would signify pulmonary hypertension and right-sided cardiac failure. 10. It Is Important not only to state the diagnosis, but also to (a) establish the direction of shunt and (b) haemodynamlc slanlllcance.The presence of cyanosis will suggest a right-to-left shunt.The presence of pulmonary hypertension and/or left ventricular enlargement will suggest a POA is haemodynamicatly significant. Questions commonly asked by examiners How common is a patent ductus arteriosus? Ths l"'!p('e:Sents 5-10% of all congenital heart disease.lt occurs in approximately 8 on 1000 of live births. What is the pathophysiology? The ductus Is denved from the 6th aortic arch. From the 6th week of fetal Hfe, It IS responsible for most of right ventricular outflow, diverting blood from the pulmonary arteries into the systemic corculation, thus bypassing the fetal lungs.The ductus patency is promoted by prostaglandin E, during fetal life. Normally, functional closure of the ductus occurs within 15 hours of borth.This occurs woth the first breath, and the increased pO, causes abrupt muscle contraction of the ductus.After functional closure. true anatomical closure. i.e. where the ductus loses its ability to re-open can take several weeks.The presence of a ductus after 3 months is usually doagnosed