cardiomyopathies. introduction define cardiomyopathy define cardiomyopathy primary cardiomyopathies...

CardiomyopathiesCardiomyopathies

IntroductionIntroduction Define CardiomyopathyDefine Cardiomyopathy Primary Cardiomyopathies Primary Cardiomyopathies

Hypertrophic CardiomyopathyHypertrophic Cardiomyopathy ARVDARVD Ion ChannelopathiesIon Channelopathies Dilated CardiomyopathyDilated Cardiomyopathy Restrictive CardiomyopathyRestrictive Cardiomyopathy MyocarditisMyocarditis OthersOthers

Secondary CardiomyopathiesSecondary Cardiomyopathies Infiltrative DiseaseInfiltrative Disease

Evolving DefinitionEvolving Definition

1957 – Cardiomyopathy used for first 1957 – Cardiomyopathy used for first timetime

1980 WHO – “heart muscle disease of 1980 WHO – “heart muscle disease of unknown cause”unknown cause”

1984 WHO – “diseases of different and 1984 WHO – “diseases of different and often unknown etiology in which the often unknown etiology in which the dominant feature is cardiomegaly and dominant feature is cardiomegaly and heart failure”heart failure”

1995 WHO – “disease of myocardium 1995 WHO – “disease of myocardium associated with cardiac dysfunction”associated with cardiac dysfunction”

Current Consensus DefinitionCurrent Consensus Definition

““a heterogeneous group of diseases of the a heterogeneous group of diseases of the myocardium associated with myocardium associated with mechanicalmechanical and/or and/or electricalelectrical dysfunction that usually dysfunction that usually (but not invariably) exhibit inappropriate (but not invariably) exhibit inappropriate ventricular ventricular hypertrophyhypertrophy or or dilationdilation and are and are due to a variety of causes that frequently are due to a variety of causes that frequently are genetic. Cardiomyopathies either are genetic. Cardiomyopathies either are confined to the heart or are part of confined to the heart or are part of generalized systemic disorders, often leading generalized systemic disorders, often leading to cardiovascular death or progressive heart to cardiovascular death or progressive heart failure-related disability.”failure-related disability.”

Maron, BJ. Et al. Circulation. 2006; 113: 1807-1816.

That what is not…That what is not…

Disease entities NOT included in current Disease entities NOT included in current definition of cardiomyopathy (direct definition of cardiomyopathy (direct consequence of other cardiovascular consequence of other cardiovascular abnormalities):abnormalities): Ischemic Heart DiseaseIschemic Heart Disease Valvular obstruction and InsufficiencyValvular obstruction and Insufficiency Hypertensive Heart Disease (poorly defined)Hypertensive Heart Disease (poorly defined) Congenital Heart DiseaseCongenital Heart Disease Metastatic and primary intracavitary or Metastatic and primary intracavitary or

intramyocardial cardiac tumorsintramyocardial cardiac tumors


That what IS…That what IS…

Primary CardiomyopathiesPrimary Cardiomyopathies


Secondary CardiomyopathiesSecondary Cardiomyopathies Secondary Cardiomyopathies (“specific Secondary Cardiomyopathies (“specific

cardiomyopathies”)cardiomyopathies”) Infiltrative Infiltrative Storage DiseasesStorage Diseases Toxic injury, Cancer TherapyToxic injury, Cancer Therapy Endomyocardial DiseaseEndomyocardial Disease Inflammatory (Sarcoid)Inflammatory (Sarcoid) EndocrinopathiesEndocrinopathies CardiofacialCardiofacial Rheumatologic Disease (Autoimmune)Rheumatologic Disease (Autoimmune) Muscular DystrophiesMuscular Dystrophies Nutritional/ElectrolyteNutritional/Electrolyte


Work-up/EvaluationWork-up/Evaluation History & Physical ExaminationHistory & Physical Examination Biomarkers – May be elevated in myocarditis or Biomarkers – May be elevated in myocarditis or

acute injuryacute injury EKGEKG EchocardiogramEchocardiogram

Segmental vs. Global wall abnormalities, chamber size, Segmental vs. Global wall abnormalities, chamber size, RV functionRV function

MRIMRI Distinguish ischemic from non-ischemicDistinguish ischemic from non-ischemic

Biopsy (Class IIb) Biopsy (Class IIb) unexplained new-onset heart failure <2 weeks with unexplained new-onset heart failure <2 weeks with

normal size/dilated LV with hemodynamic compromisenormal size/dilated LV with hemodynamic compromise Unexplained new-onset heart failure 2 weeks to 3 Unexplained new-onset heart failure 2 weeks to 3

months with dilation and new arrhythmia or blockmonths with dilation and new arrhythmia or block

The Genetic The Genetic Cardiomyopathies: Cardiomyopathies:

Hypertrophic Cardiomyopathy

HCM FactsHCM Facts

Autosomal Dominant (1:500 phenotypic Autosomal Dominant (1:500 phenotypic expression by echo)expression by echo)

Most common cause of SCD in youngMost common cause of SCD in young Common cause of HF disability in all agesCommon cause of HF disability in all ages Diagnosis by 2-D Echo or MRI after Diagnosis by 2-D Echo or MRI after

clinical suspicion (personal or family clinical suspicion (personal or family history)history)

Differentiate from physiologic athletic Differentiate from physiologic athletic heartheart

Patient PresentationPatient Presentation Hypertrophy of myocardium (20-40 mm), usually Hypertrophy of myocardium (20-40 mm), usually

in basal to mid-ventricular septumin basal to mid-ventricular septum Leads to subaortic obstruction (20-40% at rest, majority Leads to subaortic obstruction (20-40% at rest, majority

during stress) – worsened with decreased preload, during stress) – worsened with decreased preload, decreased afterload, or increased contractilitydecreased afterload, or increased contractility

Anterior mitral leaflet may contact the ventricular Anterior mitral leaflet may contact the ventricular septum resulting in “systolic anterior motion”septum resulting in “systolic anterior motion”

Mitral regurgitationMitral regurgitation Dyspnea Dyspnea or or Pre-Syncope/ SyncopePre-Syncope/ Syncope

Small-normal LV cavity size – Diastolic Small-normal LV cavity size – Diastolic dysfunctiondysfunction Increased left atrial pressure – Increased left atrial pressure – Dyspnea with exertionDyspnea with exertion

Myocardial ischemia -- Myocardial ischemia -- AnginaAngina Arrhythmia, Sudden Cardiac Death (1% per year)Arrhythmia, Sudden Cardiac Death (1% per year) Autonomic Dysfunction (25%)Autonomic Dysfunction (25%)

HCM Physical ExamHCM Physical Exam

Palpable double apical impulse – Large Palpable double apical impulse – Large atrial kick, sustained LV impulseatrial kick, sustained LV impulse

Increased JVP with prominent “a wave”Increased JVP with prominent “a wave” Carotid with rapid upstroke with “bifid”Carotid with rapid upstroke with “bifid” Murmur increase with maneuvers that Murmur increase with maneuvers that

drop LVED volumedrop LVED volume Valsalva, pure vasodilators, Dehydration, Valsalva, pure vasodilators, Dehydration,

decreased venous returndecreased venous return Decreases with squattingDecreases with squatting

S3 and S4 gallops commonS3 and S4 gallops common

HCM PathophysiologyHCM Pathophysiology

11 identified mutant genes (beta-myosin 11 identified mutant genes (beta-myosin heavy chain, myosin-binding protein C, et heavy chain, myosin-binding protein C, et al.) and >400 individual mutationsal.) and >400 individual mutations Mutations alter sarcomeric functionMutations alter sarcomeric function Lead to hypertrophy and fibrosisLead to hypertrophy and fibrosis Myocardial diarrayMyocardial diarray Thrombosis and obliteration of small Thrombosis and obliteration of small

vesselsvessels Other genetic diseases may mimic HCMOther genetic diseases may mimic HCM Mitochondrial derangementsMitochondrial derangements

Hypertrophic CM ScreeningHypertrophic CM Screening

Adult family members of HCM Adult family members of HCM patients should get surveillance echo patients should get surveillance echo every 5 yearsevery 5 years Adolescents every 12-18 monthsAdolescents every 12-18 months

Genetic testing only 50% accurateGenetic testing only 50% accurate

Management of HCMManagement of HCM Avoid dehydrationAvoid dehydration Avoid competitive athletics or stenuous activityAvoid competitive athletics or stenuous activity Pure vasodilators, high-dose diuretics, positive Pure vasodilators, high-dose diuretics, positive

inotropes should be avoidedinotropes should be avoided First-line therapy – beta blockersFirst-line therapy – beta blockers

Non-dihydropyridine Ca channel blockersNon-dihydropyridine Ca channel blockers Septal myectomy or alcohol septal ablation for Septal myectomy or alcohol septal ablation for

disabling effort related symptomsdisabling effort related symptoms ICD for patient’s with hx of cardiac arrest or VTICD for patient’s with hx of cardiac arrest or VT

Also for patient’s with 2 of following: +Fam hx, syncope Also for patient’s with 2 of following: +Fam hx, syncope in young, NSVT episodes, >3 cm hypertrophy, in young, NSVT episodes, >3 cm hypertrophy, autonomic dysfxnautonomic dysfxn

A 42 y/o woman comes to the office for evaluation of progressive angina A 42 y/o woman comes to the office for evaluation of progressive angina and dyspnea on exertion that she has noticed for the past 6 months. She and dyspnea on exertion that she has noticed for the past 6 months. She has no history of cardiovascular disease, other than a longstanding has no history of cardiovascular disease, other than a longstanding murmur. She has never smoked, has no family history of CAD, does not murmur. She has never smoked, has no family history of CAD, does not have DM or HTN, and has normal Lipids. On phyical examination, BP have DM or HTN, and has normal Lipids. On phyical examination, BP 112/70, HR 86, with regular rhythm; JVP normal; carotid upstorkes are brisk 112/70, HR 86, with regular rhythm; JVP normal; carotid upstorkes are brisk without bruits; and lung fields are clear. Cardiac examination shows without bruits; and lung fields are clear. Cardiac examination shows normal S1 and S2. An S4 is also noted. She has a grade II/VI late-peaking normal S1 and S2. An S4 is also noted. She has a grade II/VI late-peaking systolic ejection murmur that increased with the strain phase of Valsalva systolic ejection murmur that increased with the strain phase of Valsalva maneuver as well as when she rises from squatting to standing. The apical maneuver as well as when she rises from squatting to standing. The apical impulse is bifid. The abdomen and extrmities appear normal. impulse is bifid. The abdomen and extrmities appear normal.

Chest radiography shows mild increase in pulmonary vascularity. Heart Chest radiography shows mild increase in pulmonary vascularity. Heart normal size. ECG shows LVG with deep T-wave inversions in precordial normal size. ECG shows LVG with deep T-wave inversions in precordial leads. Echocardiogram shows asymmetric septal hypertrophy, with leads. Echocardiogram shows asymmetric septal hypertrophy, with maximum septal thickness of 22 mm. Significant systolic anterior motion maximum septal thickness of 22 mm. Significant systolic anterior motion of the mitral valve is noted and causes moderate mitral regurgitation. The of the mitral valve is noted and causes moderate mitral regurgitation. The patient has a left ventricular outflow tract obstruction of 64 mm Hg.patient has a left ventricular outflow tract obstruction of 64 mm Hg.

Which of the following is best initial management of this patient’s Which of the following is best initial management of this patient’s condition?condition?

A. Isosorbide mononitrate 30 mg/dA. Isosorbide mononitrate 30 mg/d B. Lisinopril 5 mg/dB. Lisinopril 5 mg/d C. Metoprolol 25 mg twice a dayC. Metoprolol 25 mg twice a day D. Furosemide, 40 mg twice a dayD. Furosemide, 40 mg twice a day E. Sustaine-release nifedipine, 60 mg/dE. Sustaine-release nifedipine, 60 mg/d


Arrythmogenic RV Dysplasia

Arrhythmogenic RV DysplasiaArrhythmogenic RV Dysplasia

Autosomal dominant with incomplete Autosomal dominant with incomplete penetrance: 1:5000 phenotypic penetrance: 1:5000 phenotypic expressionexpression

RV predominantly involved with myocyte RV predominantly involved with myocyte loss with regional fatty of fibrofatty loss with regional fatty of fibrofatty tissue replacementtissue replacement LV involvement in 75% of patientsLV involvement in 75% of patients

Presents with ventricular tachyarrhthmia Presents with ventricular tachyarrhthmia Most common cause of sudden death in Most common cause of sudden death in

competitive athletes in Italycompetitive athletes in Italy

AVRD DiagnosisAVRD Diagnosis

Diagnosis based on:Diagnosis based on: Arrhythmia, syncope, or cardiac arrestArrhythmia, syncope, or cardiac arrest Global or segmental chamber dilation or Global or segmental chamber dilation or

wall motion abnormalities (usually in wall motion abnormalities (usually in RV)RV)

Diagnostic Testing:Diagnostic Testing: ECG (T wave inversion in V1-V3, RBBB)ECG (T wave inversion in V1-V3, RBBB) Echo, Cardiac MRIEcho, Cardiac MRI, Cardiac CT, and RV , Cardiac CT, and RV

angiographyangiography Endomyocardial biopsyEndomyocardial biopsy


Left Ventricular Noncompaction

LV NoncompactionLV Noncompaction

Distinctive “spongy” appearance of LV Distinctive “spongy” appearance of LV myocardiummyocardium

Usually involves distal (apical) portion of LV Usually involves distal (apical) portion of LV chamberchamber

Results from arrest in normal embryogenesis Results from arrest in normal embryogenesis in both familial and nonfamilial formsin both familial and nonfamilial forms

Diagnosed by 2D echo, MRI or LV Diagnosed by 2D echo, MRI or LV angiographyangiography

Associated with HF, thromboemboli, Associated with HF, thromboemboli, arrythmia, and sudden deatharrythmia, and sudden death


Ion Channelopathies

Ion ChannelopathiesIon Channelopathies

LQT SyndromeLQT Syndrome Risk for torsade des pointes, syncope, and Risk for torsade des pointes, syncope, and

sudden cardiac deathsudden cardiac death Variable phenotypic expressionVariable phenotypic expression Jervell & Lange-Nielson syndromeJervell & Lange-Nielson syndrome

Associated with deafnessAssociated with deafness Autosomal recessiveAutosomal recessive 2 genes that code for slow potassium channel2 genes that code for slow potassium channel

Romano-Ward syndromeRomano-Ward syndrome More common autosomal dominantMore common autosomal dominant 8 genes may have mutations (6 for K channels, 1 for 8 genes may have mutations (6 for K channels, 1 for

Na channel, 1 for ankyrin)Na channel, 1 for ankyrin)

Ion ChannelopathiesIon Channelopathies Brugada SyndromeBrugada Syndrome

First described in 1992First described in 1992 Sudden cardiac death in young peopleSudden cardiac death in young people EKG with RBBB and coved ST-segment EKG with RBBB and coved ST-segment

elevation in V1-V3elevation in V1-V3 If concealed can be unmasked with If concealed can be unmasked with

Class I antiarrythmicsClass I antiarrythmics Linked to mutations in cardiac sodium Linked to mutations in cardiac sodium

channel gene (LQT3)channel gene (LQT3) Short QT SyndromeShort QT Syndrome

Sudden cardiac death from Sudden cardiac death from VT/fibrillationVT/fibrillation

Tall peaked T waves as with Tall peaked T waves as with hyperkalemiahyperkalemia

Ion ChannelopathiesIon Channelopathies

Catecholaminergic Polymorphic Catecholaminergic Polymorphic Ventricular TachycardiaVentricular Tachycardia Syncope, Sudden death, polymorphic VT Syncope, Sudden death, polymorphic VT

triggered by vigorous exertion or emotiontriggered by vigorous exertion or emotion Normal resting ECGNormal resting ECG Autosomal dominant form linked to RYR2 Autosomal dominant form linked to RYR2

gene which codes for “large ryanodine gene which codes for “large ryanodine receptor protein” that regulates calciumreceptor protein” that regulates calcium

Ideopathic Ventricular FibrillationIdeopathic Ventricular Fibrillation

Mixed Cardiomyopathies: Mixed Cardiomyopathies:

Dilated Cardiomyopathy

Dilated CardiomyopathyDilated Cardiomyopathy

Common with prevalence of 1:2500 Common with prevalence of 1:2500 usually in 3usually in 3rdrd to 4 to 4thth decade with 3:1 male decade with 3:1 male to female ratioto female ratio

Most common cause of heart transplantMost common cause of heart transplant Ventricular enlargement, systolic Ventricular enlargement, systolic

dysfunction, and normal LV thicknessdysfunction, and normal LV thickness Diagnosis by 2D EchoDiagnosis by 2D Echo Progressive HF, arrhythmia, heart block, Progressive HF, arrhythmia, heart block,

thromboembolism, sudden deaththromboembolism, sudden death

DCM CausesDCM Causes Both genetic and acquiredBoth genetic and acquired

Infectious agents (viral, bacterial, fungal, myobacterial, Infectious agents (viral, bacterial, fungal, myobacterial, parastitic)parastitic)

Toxins (alcohol, chemo/doxorubicin)Toxins (alcohol, chemo/doxorubicin) AutoimmuneAutoimmune

Post-viral “Barney Clark’s DiseasePost-viral “Barney Clark’s Disease Dermatomyositis/Connective Tissue DiseaseDermatomyositis/Connective Tissue Disease

Endocrinopathies (Pheo, Acromegally)Endocrinopathies (Pheo, Acromegally) Neuromuscular disease (muscular dystrophy)Neuromuscular disease (muscular dystrophy) Infiltrative Diseases (hemochromatosis, sarcoid)Infiltrative Diseases (hemochromatosis, sarcoid) Mitochondrial defectsMitochondrial defects Metabolic/NutritionalMetabolic/Nutritional Familial (20-35% of cases)Familial (20-35% of cases)

Mixed Cardiomyopathies: Mixed Cardiomyopathies:

Restrictive Cardiomyopathy

Restrictive CardiomyopathyRestrictive Cardiomyopathy

Increased stiffness of myocardiumIncreased stiffness of myocardium Impaired ventricular filling Impaired ventricular filling

Normal or reduced diastolic volumeNormal or reduced diastolic volume Normal or near-normal systolic functionNormal or near-normal systolic function

Right-sided HF symptoms (JVD, edema, Right-sided HF symptoms (JVD, edema, ascites) more than left-sided symptomsascites) more than left-sided symptoms

Pathogenesis of RCMPathogenesis of RCM

Pressure in walls of ventricle rise Pressure in walls of ventricle rise precipitously with minimal increase in precipitously with minimal increase in volumevolume Early diastolic filling of Early diastolic filling of ventricleventricle Deep and early Deep and early

decline in ventricular decline in ventricular pressurepressure

Rapid rise to plateau Rapid rise to plateau in early diastole in early diastole (square root)(square root)

Restrictive CM vs. Constrictive Restrictive CM vs. Constrictive PericarditisPericarditis

Must distinguish from Must distinguish from constrictive pericarditisconstrictive pericarditis Kussmaul’s (CP)Kussmaul’s (CP) Rapid y-descent more Rapid y-descent more

common (CP)common (CP) LVEDP usually equal to LVEDP usually equal to

RVEDP (CP)RVEDP (CP) Increased RV systolic Increased RV systolic

velocity and decreased LV velocity and decreased LV systolic velocity with systolic velocity with inspiration (CP)inspiration (CP)

EtiologiesEtiologies

Idiopathic RCM/ Primary RCMIdiopathic RCM/ Primary RCM AmyloidosisAmyloidosis Infiltrative/Storage DiseaseInfiltrative/Storage Disease Endomyocardial Fibrosis/ Eosinophilic Endomyocardial Fibrosis/ Eosinophilic

DiseaseDisease

Primary Restrictive Primary Restrictive CardiomyopathyCardiomyopathy

Rare Rare Either sporadic and familial formsEither sporadic and familial forms Mild to mod increase in cardiac weight Mild to mod increase in cardiac weight

with patchy interstitial fibrosiswith patchy interstitial fibrosis Normal or decreased volume of ventricles, Normal or decreased volume of ventricles,

normal thickness but impaired ventricular normal thickness but impaired ventricular filling with restrictive physiologyfilling with restrictive physiology

Normal systolic functionNormal systolic function Biatrial enlargement with thrombi in atrial Biatrial enlargement with thrombi in atrial

appendages common (1/3 of patients)appendages common (1/3 of patients) May require permanent pacingMay require permanent pacing

Treatment of Restrictive DiseaseTreatment of Restrictive Disease

Diuretics with caution (preload Diuretics with caution (preload dependence)dependence)

Treat atrial fibrillation (rhythm or rate)Treat atrial fibrillation (rhythm or rate) Chronotropic agents may worsen Chronotropic agents may worsen

failure -- Fixed stroke volumefailure -- Fixed stroke volume PacemakerPacemaker Oral anticoagulationOral anticoagulation Heart transplantationHeart transplantation

Acquired Acquired Cardiomyopathies: Cardiomyopathies:

Myocarditis

MyocarditisMyocarditis

Diagnosed as DCM over weeks to monthsDiagnosed as DCM over weeks to months Slight male predominanceSlight male predominance Symptoms range from fatigue, DOE, Symptoms range from fatigue, DOE,

palpitations, precordial chest pain and palpitations, precordial chest pain and syncopesyncope

Often associated with viral prodromeOften associated with viral prodrome Commonly associated with myopericarditisCommonly associated with myopericarditis Most resolve with few short-term sequelae Most resolve with few short-term sequelae

over one to six monthsover one to six months Important cause of sudden deathImportant cause of sudden death

Cooper, LT. NEJM. 2009; 360:1526-1538.

Myocarditis Infectious CausesMyocarditis Infectious Causes Viral & Post-viralViral & Post-viral

Coxsackievirus B – 1950’s through 1990’sCoxsackievirus B – 1950’s through 1990’s Adenovirus – late 1990’sAdenovirus – late 1990’s Parvovirus B19 & other viruses – past 5 yearsParvovirus B19 & other viruses – past 5 years Hepatitis CHepatitis C Less commonly: Epstein-Barr virus, CMV, HHV-6Less commonly: Epstein-Barr virus, CMV, HHV-6

Borrelia burgdorferiBorrelia burgdorferi (Lyme) (Lyme) Transient/permanent heart block or arryhthmiaTransient/permanent heart block or arryhthmia Coinfection with ehrlichia or babesiaCoinfection with ehrlichia or babesia

Trypanosoma cruziTrypanosoma cruzi (South America) (South America) With RBBB or LAFB (arryhthmia or heart block in 10-With RBBB or LAFB (arryhthmia or heart block in 10-

20%)20%) Left ventricular apical aneurysm, diffuse or regionalLeft ventricular apical aneurysm, diffuse or regional

HIV – 50% or more of HIV patients on autopsyHIV – 50% or more of HIV patients on autopsyCooper, LT. NEJM. 2009; 360:1526-1538.

Myocarditis VariantsMyocarditis Variants Hypersensitivity Myocarditis -- Rash, fever, Hypersensitivity Myocarditis -- Rash, fever,

eosinophilia after medications -- Anticonvulsants, eosinophilia after medications -- Anticonvulsants, antibiotics, antipsychoticsantibiotics, antipsychotics Also seen with Churg-Strauss, Loffler’s endomyocardial Also seen with Churg-Strauss, Loffler’s endomyocardial

fibrosis, cancer and parasitic infectionsfibrosis, cancer and parasitic infections May see valvular fibrosis, CHF, and endocardial thrombiMay see valvular fibrosis, CHF, and endocardial thrombi May need treatment with corticosteroidsMay need treatment with corticosteroids

Giant-cell myocarditis -- DCM with thymoma, Giant-cell myocarditis -- DCM with thymoma, autoimmune disorder, VT, or heart blockautoimmune disorder, VT, or heart block Multinucleated giant cells and eosinophilsMultinucleated giant cells and eosinophils High need for Cardiac TransplantHigh need for Cardiac Transplant

Sarcoid myocarditisSarcoid myocarditis Evidence of Granuloma formationEvidence of Granuloma formation

Acute Rheumatic FeverAcute Rheumatic Fever

Cooper, LT. NEJM. 2009; 360:1526-1538.

Cooper, LT. NEJM. 2009; 360:1526-1538.

Myocarditis Treatment Myocarditis Treatment

Myocarditis Treatment Trial showed Myocarditis Treatment Trial showed no benefit to prednisolone plus no benefit to prednisolone plus cyclosporine or azathioprine vs. cyclosporine or azathioprine vs. placebo for biopsy-proven placebo for biopsy-proven lymphocytic myocarditis.lymphocytic myocarditis.

IMAC (Immune Modulation for Acute IMAC (Immune Modulation for Acute Cardiomyopathy) showed no benefit Cardiomyopathy) showed no benefit of IVIG over usual care in LV fxnof IVIG over usual care in LV fxn

Murphy, JG, & Lloyd, MA. Mayo Clinic Concise Textbook, 3rd Ed. 2007.

Acquired Acquired Cardiomyopathies: Cardiomyopathies:

Others

Tako-Tsubo CardiomyopathyTako-Tsubo Cardiomyopathy

Acute but rapidly reversible LV Acute but rapidly reversible LV systolic dysfunctionsystolic dysfunction

No atherosclerotic CADNo atherosclerotic CAD Triggered by profound psychological Triggered by profound psychological

stressstress Typically seen in older womenTypically seen in older women ““apical ballooning” with basal LV apical ballooning” with basal LV

hypercontractilehypercontractile

Peripartum CardiomyopathyPeripartum Cardiomyopathy

RareRare Dilated Cardiomyopathy with impaired Dilated Cardiomyopathy with impaired

LV functionLV function Seen in 3Seen in 3rdrd trimester or first 5 months trimester or first 5 months

postpartumpostpartum More frequently in obese, multiparous More frequently in obese, multiparous

women >30, with preeclampsiawomen >30, with preeclampsia 50% with complete recovery in 6 50% with complete recovery in 6

monthsmonths

A 35 y/o woman who is 39 weeks pregnant presents with A 35 y/o woman who is 39 weeks pregnant presents with progressive dyspnea. She was previously asymptomatic progressive dyspnea. She was previously asymptomatic and has no history of cardiovascular disease. This and has no history of cardiovascular disease. This pregnancy is her first. Physical examination shows a pregnancy is her first. Physical examination shows a jugular venous pressure of 13 cm H20, a diffuse apical jugular venous pressure of 13 cm H20, a diffuse apical impulse, and an apical systolic murmur. S3 and S4 are impulse, and an apical systolic murmur. S3 and S4 are noted at the apex. Crackles are noted in both lungs. An noted at the apex. Crackles are noted in both lungs. An electrocardiogram shows sinus tachycardia, but is electrocardiogram shows sinus tachycardia, but is otherwise normal. otherwise normal.

Base on this patient’s findings, which of the following is the Base on this patient’s findings, which of the following is the most likely diagnosis?most likely diagnosis? A. Severe aortic valve stenosisA. Severe aortic valve stenosis B. Severe tricuspid valve regurgitationB. Severe tricuspid valve regurgitation C. Atrial Septal DefectC. Atrial Septal Defect D. Peripartum cardiomyopathyD. Peripartum cardiomyopathy E. Pulmonary embolismE. Pulmonary embolism

OthersOthers

Tachycardia Induced Tachycardia Induced CardiomyopathyCardiomyopathy Follows prolonged periods of SVT or VTFollows prolonged periods of SVT or VT May mimic idiopathic DCMMay mimic idiopathic DCM Systolic function improves without Systolic function improves without

impairment after tachycardia treatedimpairment after tachycardia treated Alcohol induced dilated Alcohol induced dilated

cardiomyopathycardiomyopathy Reversible on cessation of alcohol intakeReversible on cessation of alcohol intake

Secondary Secondary Cardiomyopathies: Cardiomyopathies:

Infiltrative and Storage Diseases

AmyloidAmyloid Usually presents with hypertrophy, Usually presents with hypertrophy,

anginaangina, and “restrictive physiology” , and “restrictive physiology” (associated with 55% mortality)(associated with 55% mortality)

May see thrombi in LAA May see thrombi in LAA Myocardial tissue damaged and Myocardial tissue damaged and

replaced with infiltrative interstitial replaced with infiltrative interstitial deposits deposits

““Scintillating granular sparkling”Scintillating granular sparkling” Conduction abnormalitiesConduction abnormalities

Normal to Low voltage EKGNormal to Low voltage EKG EtiologiesEtiologies

Primary– Caused by deposition of Primary– Caused by deposition of immunoglobulin light chains from immunoglobulin light chains from plasma cells, as in multiple myelomaplasma cells, as in multiple myeloma

Secondary – less commonly involving Secondary – less commonly involving heart; result of inflammatory or heart; result of inflammatory or rheumatic diseaserheumatic disease

FamilialFamilial

Other Infiltrative CMsOther Infiltrative CMs

Usually present as Restrictive Usually present as Restrictive CardiomyopathiesCardiomyopathies

In wall, valves, or coronary arteriesIn wall, valves, or coronary arteries Gaucher Disease – GlucocerebrosideGaucher Disease – Glucocerebroside Hurler’s Disease -- Hurler’s Disease --

MucopolysaccharideMucopolysaccharide Hunter’s Disease -- Hunter’s Disease --

MucopolysaccharideMucopolysaccharide

Storage DiseasesStorage Diseases

Hemochromatosis Hemochromatosis Walls not thickenedWalls not thickened Improvement in function with treatment Improvement in function with treatment

Fabry-Anderson DiseaseFabry-Anderson Disease Glycogen storage disease (Pompe, Glycogen storage disease (Pompe,

type II)type II) Niemann-Pick diseaseNiemann-Pick disease


Toxins

ToxicityToxicity

DrugsDrugs AlcoholAlcohol Heavy metalsHeavy metals Chemical AgentsChemical Agents Antracyclines: Doxorubicin Antracyclines: Doxorubicin

(adriamycin), danuorubicin(adriamycin), danuorubicin CyclophosphamideCyclophosphamide RadiationRadiation

38 y/o female undergoing chemotherapy for Hodgkin's lymphoma 38 y/o female undergoing chemotherapy for Hodgkin's lymphoma presents with new-onset shortness of breath, orthopnea, and lower presents with new-onset shortness of breath, orthopnea, and lower extremity edema. She has completed three courses of extremity edema. She has completed three courses of chemotherapy including doxorubicin to total dose of 250 mg/m2. chemotherapy including doxorubicin to total dose of 250 mg/m2. Her prechemotherapy echocardiogram was normal. She had no Her prechemotherapy echocardiogram was normal. She had no significant medical history until diagnosis of Hodgkin’s lymphoma. significant medical history until diagnosis of Hodgkin’s lymphoma. Her family history is unremarkable. She has no history of alcohol or Her family history is unremarkable. She has no history of alcohol or smoking. smoking.

Her blood pressure is 110/60 and her HR is 88 bpm. She has JVP of Her blood pressure is 110/60 and her HR is 88 bpm. She has JVP of 14 cm with bibasilar rales. She has a regular rhythm, a 3/6 14 cm with bibasilar rales. She has a regular rhythm, a 3/6 holosystolic murmur at apex, and an S3. She has 2+ pitting lower holosystolic murmur at apex, and an S3. She has 2+ pitting lower extremity edema. Laboratory data includes a hemoglobin of 11.1 extremity edema. Laboratory data includes a hemoglobin of 11.1 g/dL, sodium 142 mg/dL, potassium 4.2 mg/dL, glucose 80 mg/dL, g/dL, sodium 142 mg/dL, potassium 4.2 mg/dL, glucose 80 mg/dL, and creatinine 1.1 mg/dL. Her chest radiograph shows and creatinine 1.1 mg/dL. Her chest radiograph shows cardiomegaly with pulmonary vascular redistribution and a small cardiomegaly with pulmonary vascular redistribution and a small bilateral pleural effusion. Electrocardiogram shows normal sinus bilateral pleural effusion. Electrocardiogram shows normal sinus rhythm, poor R wave progression , and nonspecific ST and T wave rhythm, poor R wave progression , and nonspecific ST and T wave changes. Repeat echocardiogram now shows a LVEF of 25% with changes. Repeat echocardiogram now shows a LVEF of 25% with moderate MR. moderate MR.

What do you recommend to her oncologist?What do you recommend to her oncologist? A. Continue current regimen of chemotherapyA. Continue current regimen of chemotherapy B. Continue current regimen of chemotherpy but add ACE inhibitorB. Continue current regimen of chemotherpy but add ACE inhibitor C. Continue current regimen of chemotherapy but add ACE inhibitor and C. Continue current regimen of chemotherapy but add ACE inhibitor and

beta-blockerbeta-blocker D. Change to nonanthracycline chemotherapy regimenD. Change to nonanthracycline chemotherapy regimen E. Discontinue all chemotherapy.E. Discontinue all chemotherapy.

A 35 y/o man who underwent closure of an ASD at age 5 years was A 35 y/o man who underwent closure of an ASD at age 5 years was asymptomatic and physically active until 3 months ago, when he asymptomatic and physically active until 3 months ago, when he began to have exertional dyspnea and fatigue. He smokes one began to have exertional dyspnea and fatigue. He smokes one pack of cigarettes daily and drinks a six-pack of beer daily. He is a pack of cigarettes daily and drinks a six-pack of beer daily. He is a bricklayer and had to stop working for the last 2 weeks. He takes bricklayer and had to stop working for the last 2 weeks. He takes no medications. no medications.

On physical examination, BP is 105/80, HR 100 bpm with On physical examination, BP is 105/80, HR 100 bpm with occasional extra systole. JVP is 11 cm H2o. PMI is displaced. The occasional extra systole. JVP is 11 cm H2o. PMI is displaced. The patient has a soft S1, a split S2, and a grade 2/6 apical holosystolic patient has a soft S1, a split S2, and a grade 2/6 apical holosystolic murmur. The abdomen is distended, the liver is palpable 1 cm murmur. The abdomen is distended, the liver is palpable 1 cm below the right costal margin, and 2+ pedal edema is noted. Lab below the right costal margin, and 2+ pedal edema is noted. Lab tests show a total serum cholesterol of 180 mg/dL, serum TSH 2.5 tests show a total serum cholesterol of 180 mg/dL, serum TSH 2.5 microunits/mL, BUN 32 mg/DL, creatinine of 1.3 mg/dL, Alk PHos microunits/mL, BUN 32 mg/DL, creatinine of 1.3 mg/dL, Alk PHos 220 U/L, AST of 60 U/L, ALT of 75 U/L, serum filirubin of 1.2 mg/dL. 220 U/L, AST of 60 U/L, ALT of 75 U/L, serum filirubin of 1.2 mg/dL. Electrocardiogram shows nondiagnostic ST changes, with Electrocardiogram shows nondiagnostic ST changes, with occasional PVC. Gated PET scan shows an EF of 34% with global occasional PVC. Gated PET scan shows an EF of 34% with global hypokinesia.hypokinesia.

Which is the most likely cause of patient’s heart failure?Which is the most likely cause of patient’s heart failure? A. ASD patch dehiscenceA. ASD patch dehiscence B. Late heart failure as result of repair of ASDB. Late heart failure as result of repair of ASD C. Alcohol consumptionC. Alcohol consumption D. Familial dilated cardiomyopthyD. Familial dilated cardiomyopthy E. Coronary artery diseaseE. Coronary artery disease


Inflammatory/Endomyocardial

EndomyocardialEndomyocardial Hypereosinophilic syndrome (Loeffler’s Hypereosinophilic syndrome (Loeffler’s

endocarditis)endocarditis) Endomyocardial fibrosisEndomyocardial fibrosis

Found in equatorial AfricaFound in equatorial Africa Right or left cardiac failure, sudden death uncommonRight or left cardiac failure, sudden death uncommon

Severe prolonged eosinophilia leads to infiltration Severe prolonged eosinophilia leads to infiltration of myocardiumof myocardium Decreased myocardial complianceDecreased myocardial compliance Degranulation of eosinophils leads to myocardial Degranulation of eosinophils leads to myocardial

damagedamage Fibrosis, thrombus formation, obliteration of Fibrosis, thrombus formation, obliteration of

ventricular cavity, valve abnormalitiesventricular cavity, valve abnormalities Treat with steroids or cytotoxic agentsTreat with steroids or cytotoxic agents

Inflammatory (granulomatous)Inflammatory (granulomatous)

SarcoidosisSarcoidosis Initially diastolic then systolic Initially diastolic then systolic

dysfunctiondysfunction Regional wall motion abnormalitiesRegional wall motion abnormalities Sudden death due to conduction system Sudden death due to conduction system

abnormalities/blocksabnormalities/blocks LeukemiaLeukemia

AutoimmuneAutoimmune

Systemic Lupus ErythematosisSystemic Lupus Erythematosis DermatomyositisDermatomyositis Rheumatoid arthritisRheumatoid arthritis SclerodermaScleroderma Polyarteritis nodosaPolyarteritis nodosa


Others

EndocrinopathiesEndocrinopathies

DMDM HyperthyroidismHyperthyroidism HypothyroidismHypothyroidism HyperparathyroidsimHyperparathyroidsim Adrenal cortical insuffiencyAdrenal cortical insuffiency PheochromocytomaPheochromocytoma AcromegalyAcromegaly

Neuromuscular DisordersNeuromuscular Disorders

Friedreich’s ataxiaFriedreich’s ataxia Duchenne-Becker muscular Duchenne-Becker muscular

dystrophydystrophy Emery-Dreifuss muscular dystrophyEmery-Dreifuss muscular dystrophy Myotonic dystrophyMyotonic dystrophy NeurofibromatosisNeurofibromatosis Tuberous sclerosisTuberous sclerosis Noonan Syndrome -- CardiofacialNoonan Syndrome -- Cardiofacial

Nutritional/ElectrolytesNutritional/Electrolytes

Beriberi (thiamine) Beriberi (thiamine) Pallagra (niacin)Pallagra (niacin) Scurvy (Vit C)Scurvy (Vit C) Selenium Selenium CarnitineCarnitine KwashiorkorKwashiorkor Electrolyte imbalances (K, Mg)Electrolyte imbalances (K, Mg)

http://upload.wikimedia.org/wikipedia/commons/4/4d/Kwashiorkor_6180.jpg

ConclusionsConclusions

Current classification of Current classification of Cardiomyopathies include both Primary Cardiomyopathies include both Primary and Secondary Causesand Secondary Causes

Hypertrophic Cardiomyopathy, known for Hypertrophic Cardiomyopathy, known for triad of dyspnea, pre-syncope, and triad of dyspnea, pre-syncope, and angina is genetic disorder seen in young angina is genetic disorder seen in young athletes associated with sudden cardiac athletes associated with sudden cardiac deathdeath

AVRD is pathologic condition associated AVRD is pathologic condition associated with VT and RV chamber fatty infiltrationwith VT and RV chamber fatty infiltration


LQTS and Brugada Syndrome are Ion LQTS and Brugada Syndrome are Ion Channel Disorders associated with sudden Channel Disorders associated with sudden cardiac death in the youngcardiac death in the young

75% of Dilated Cardiomyopathies from 75% of Dilated Cardiomyopathies from secondary causes, commonly associated secondary causes, commonly associated with alcohol use and hypertensionwith alcohol use and hypertension

Restrictive Cardiomyopathies are Restrictive Cardiomyopathies are associated with elevated diastolic associated with elevated diastolic pressures (square root sign) and impaired pressures (square root sign) and impaired diastolic filling diastolic filling


Common infectious etiologies of Common infectious etiologies of Myocarditis have evolved from Myocarditis have evolved from Coxsackievirus to Parvovirus B19Coxsackievirus to Parvovirus B19

Tako-Tsubo Cardiomyopathy is a rapidly Tako-Tsubo Cardiomyopathy is a rapidly reversible cause of LV dysfunction reversible cause of LV dysfunction associated with emotional stressassociated with emotional stress

Peri-partum Cardiomyopathy, usually Peri-partum Cardiomyopathy, usually presenting as a dilated cardiomyopathy, presenting as a dilated cardiomyopathy, can be seen from the 3can be seen from the 3rdrd trimester up to 5 trimester up to 5 weeks post-partum weeks post-partum


Amyloid Cardiomyopathy presents as a Amyloid Cardiomyopathy presents as a hypertrophic and restrictive hypertrophic and restrictive cardiomyopathy, angina, and is associated cardiomyopathy, angina, and is associated with a high mortalitywith a high mortality

Hemochromotosis and Alcohol Toxicity are Hemochromotosis and Alcohol Toxicity are reversible forms of secondary reversible forms of secondary cardiomyopathiescardiomyopathies

The antracyclines Doxorubicin The antracyclines Doxorubicin (adriamycin) and danuorubicin are (adriamycin) and danuorubicin are associated with cardiac toxicityassociated with cardiac toxicity

ReferencesReferences

• Murphy, JG, & Lloyd, MA. Mayo Clinic Concise Textbook, 3rd Ed. 2007.

• Cooper, LT. NEJM. 2009; 360:1526-1538.

• Maron, BJ. Et al. Circulation. 2006; 113: 1807-1816.

• Libby, et al. Braunwald’s Heart Disease, Eighth Ed. 2008.

Questions?Questions?

cardiomyopathies. introduction define cardiomyopathy define cardiomyopathy primary cardiomyopathies...

Documents