CARDIOMYOPATHIES

Dr. M. SOFIMD; FRCP (Loncdon); FRCPEcdin; FRCSEdin

• 1980 World Health Organization (WHO) defined cardiomyopathy as "heart muscle diseases of unknown cause" to distinguish cardiomyopathy from cardiac dysfunction due to known cardiovascular entities such as hypertension, ischemic heart disease, or valvular disease

• In 1995 WHO/International Society and Federation of Cardiology (ISFC) Task Force on the Definition and Classification of the Cardiomyopathies.

• In this 1995 classification, the cardiomyopathies were defined as "diseases of the myocardium associated with cardiac dysfunction."

• They were classified according to anatomy and physiology into the following types, each of which has multiple different cause. – Dilated cardiomyopathy (DCM)– Hypertrophic cardiomyopathy (HCM)– Restrictive cardiomyopathy (RCM)– Arrhythmogenic right

ventricular cardiomyopathy/dysplasia (ARVC/D)– Unclassified cardiomyopathies

Cardiomyopathies

CardiomyopathiesWHO Classification1. Dilated (DCM)

• Enlarged • Systolic dysfunction

2. Hypertrophic (HCM)• Thickened• Diastolic dysfunction

3. Restrictive (RCM)• Diastolic dysfunction

4. Arrhythmogenic RV Cardiomyopathy/Dysplasia (AVRCD/D)• Fibrofatty replacement

5. Unclassified• Fibroelastosis• LV no compaction

• Ischemic• Valvular• Hypertensive• Inflammatory• Metabolic• Inherited• Toxic reactions• Peripartum

CM: Specific etiologies

Ischemic: thinned, scarred tissue

• DCM is characterized by dilatation and impaired contraction of one or both ventricles.

• Affected patients have impaired systolic function and clinical presentation is usually with features of heart failure

• A diagnosis of dilated cardiomyopathy requires evidence of dilation and impaired contraction of the left ventricle or both ventricles (eg, left ventricular ejection fraction <40 percent or fractional shortening less than 25 percent).

Causes:Dilated Cardiomyopathy

Infectious diseasesViralAdenovirusCoxsackie virusCytomegalovirusHIVInfluenza virusVaricellaHepatitisEpstein-BarrEchovirusParvovirusViralAdenovirus

BacterialStreptococci-rheumatic feverTyphoid feverDiphtheriaBrucellosisPsitticosisMycobacteriaRickettsialSpirochetal    Leptospirosis   Syphillis   Lyme diseaseFungal HistoplasmosisCryptococcosis

Fungal HistoplasmosisCryptococcosisParasiticToxoplasmosisTrypanosomiasis (Chagas disease)ShistosomiasisTrichinosisDeposition diseasesHemochromatosisAmyloidosisMedicationsChemotherapeutic agentsAntiretroviral drugsPhenothiazines

Causes:

ToxinsEthanolCocaineAmphetaminesCobaltLeadLithium MercuryCarbon monoxideBerylliumNutritional deficienciesThiamineSeleniumCarnitineNiacin (pellagra)

Electrolyte and renal abnormalitiesHypocalcemiaHypophosphatemiaUremiaInflammatory/autoimmuneSystemic lupus erythematosisDermatomyositisSclerodermaRheumatoid arthritisSarcoidosisHypersensitivity myocarditisOther autoimmune myocarditisGiant cell arteritisKawasaki disease

Causes:

Endocrinologic disordersThyroid hormone excess or deficiencyGrowth hormone excess or deficiencyDiabetes mellitusCushing's syndromePheochromocytoma or other catecholamine excessGenetic with or without neuromuscular diseaseFamilial (and sporadic) genetic cardiomyopathiesDuchenne's muscular dystrophyMyotonic dystrophyFriedreich's ataxia

MiscellaneousPeripartum cardiomyopathyTachycardiaHeat strokeHypothermia Sleep apneaRadiation(Calcium overload)(Oxygen free radical damage)Ischemic heart disease

Causes:

Most patients present between the ages of 20 and 60, but can occur in children and older adults

Affected patients can present in a number of different ways .

• Symptoms of heart failure (progressive dyspnea with exertion, impaired exercise capacity, orthopnea, paroxysmal nocturnal dyspnea, and peripheral edema) are most common.

CLINICAL PRESENTATION: DILATED CARDIOMYOPATHY

Other presentations include:

• Incidental detection of asymptomatic cardiomegaly

• Symptoms related to coexisting arrhythmia, conduction disturbance

• Thromboembolic complications

• Sudden death

ETIOLOGY —(DCM) can be caused by a variety of disorders. In many cases, however, no etiology can be found

• The relative frequency of the different causes was assessed in a review of 1230 patients

• Idiopathic – 50%• Myocarditis – 9%• IHD– 7%• Infiltrative disease –

5%

• Peripartum cardiomyopathy – 4%

• Hypertension – 4%• Human

immunodeficiency virus (HIV) infection – 4%

• Connective tissue disease – 3%

• Substance abuse – 3%• Doxorubicin – 1%• Other – 10%

CLINICAL PRESENTATION: DILATED CARDIOMYOPATHY

• Familial DCM is diagnosed in patients with idiopathic cardiomyopathy who have 2 or more first- or second-degree relatives with the same disease (without defined etiology).

• 30% of ‘idiopathic’

• Inheritance patterns– Autosommal

dom/rec, x-linked, mitochondrial

• Associated phenotypes:– Skeletal muscle abn,

neurologic, auditory

• Mechanism:– Abnormalities in:• Energy production• Contractile force

generation– Specific genes

coding for:• Myosin, actin,

dystophin…

DCM: Familial Cardiomyopathy

Peripartum cardiomyopathy is a rare cause of heart failure (HF) that affects women late in pregnancy or in the early puerperium

•  Presentation of PPCM is variable and similar to that in other forms of systolic HF due to cardiomyopathy .

• Patients most commonly complain of dyspnea; other frequent symptoms include cough, orthopnea, paroxysmal nocturnal dyspnea, pedal edema, and hemoptysis.

Diagnosis (PPCM) is based upon three clinical criteria:

• Development of heart failure (HF) toward the end of pregnancy or in the months following delivery

• Absence of another identifiable cause of HF

• left ventricular (LV) systolic dysfunction with an LV ejection fraction (LVEF) generally <45 percent

DCM: Peripartum

• Fatigue• Dyspnea on

exertion• Shortness of breath• Orthopnea,

paroxysmal nocturnal dyspnea

• Increasing edema, weight, or abdominal girth

On physical examination, look for signs of heart failure and volume overload. Assess vital signs with specific attention to the following:• Tachypnea• Tachycardia• Hypertension

Dilated cardiomyopathy: Signs & Symptoms

Other pertinent findings are determined by the level of cardiac compensation or de-compensation • Signs of hypoxia (e.g.,

cyanosis, clubbing)• Jugular venous distension

(JVD)• Pulmonary edema

(crackles and/or wheezes)• S3 gallop• Enlarged liver• Peripheral edema

Look for the following on examination of the neck:• Jugular venous

distention (as an estimate of central venous pressure)

• Hepatojugular reflux• a wave• Large cv wave

(observed with tricuspid regurgitation)

• Goiter

Dilated cardiomyopathy: Signs & Symptoms

Findings on examination of the heart may include the following:• Cardiomegaly

(broad and displaced point of maximal impulse, right ventricular heave)

• Murmurs (with appropriate maneuvers)

• S2 at the base (paradoxical splitting, prominent P2)

• S3, and S4

• Tachycardia• Irregularly irregular

rhythm• Gallops

Dilated Cardiomyopathy: Signs & Symptoms

The workup in a patient with suspected cardiomyopathy may include the following:• Complete blood

count• Metabolic panel• Thyroid function

tests• Cardiac biomarkers

• B-type natriuretic peptide assay

• Chest radiography• Echocardiography• Cardiac magnetic

resonance imaging (MRI)

• Electrocardiography (ECG)

DCM: Laboratory work up

Drug classes used include the following:• Angiotensin-

converting enzyme (ACE) inhibitors

• Angiotensin II receptor blockers (ARBs)

• Beta-blockers• Aldosterone

antagonists

• Cardiac glycosides• Diuretics• Vasodilators• Antiarrhythmics• Human B-type

natriuretic peptide• Inotropic agents• Anticoagulants may

be used in selected patients.

Management: DCMTreatment of dilated cardiomyopathy is essentially the same as treatment of chronic heart failure (CHF).

Treatment:Surgical options for patients with disease refractory to medical therapy include the following:

• Left ventricular assist devices• Cardiac resynchronization therapy (biventricular pacing)• Automatic implantable cardioverter-defibrillators• Ventricular restoration surgery• Heart transplantation

Hypertrophic Cardiomyopathy

Left ventricular hypertrophy not due to pressure overload Hypertrpohy is variable in both severity and location:

-asymmetric septal hypertrophy-symmetric (non-obstructive)-apical hypertrophy

Vigorous systolic function, but impaired diastolic function

impaired relaxation of ventricleselevated diastolic pressures

Prevalence as high as 1/500 in general populationmortality in selected populations 4-6%

(institutional)probably more favorable (1%)

Signs and symptoms• Signs and

symptoms of HCM can include the following:

• Sudden cardiac death (the most devastating presenting manifestation)

• Dyspnea (the most common presenting symptom)

• Syncope • Angina• Palpitations• Orthopnea and

paroxysmal nocturnal dyspnea (early signs of congestive heart failure

• CHF (relatively uncommon but sometimes seen)

• Dizziness

Hypertrophic Cardiomyopathy

Physical findings may include:• Double apical impulse or

triple apical impulse (less common)

• Normal first heart sound; second heart sound usually is normally split but is paradoxically split in some patients with severe outflow gradients; S3 gallop is common in children but signifies decompensated CHF in adults; S4 is frequently heard

• JVP revealing a prominent a wave

• Double carotid arterial pulse

• Apical precordial impulse that is displaced laterally and usually is abnormally forceful and enlarged

• Systolic ejection crescendo-decrescendo murmur

• Holosystolic murmur at the apex and axilla of mitral regurgitation

• Diastolic decrescendo murmur of aortic regurgitation (10% of patients)

Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

No specific laboratory blood tests are required in the workup. Genetic testing is not yet widely available but is becoming increasingly so.• Two-dimensional (2-D)

echocardiography is diagnostic for HCM. Findings may be summarized as follows:

• Abnormal systolic anterior leaflet motion of the mitral valve

• Left ventricular hypertrophy (LVH)

• Left atrial enlargement• Small ventricular

chamber size• Septal hypertrophy with

septal-to-free wall ratio greater than 1.4:1

• Mitral valve prolapse and mitral regurgitation

• Decreased midaortic flow

• Partial systolic closure of the aortic valve in midsystole

Hypertrophic Cardiomyopathy: Diagnosis

Other imaging modalities that may be useful include the following:• Chest radiography• Radionuclide imaging• Cardiac MRI: Particularly

useful when echocardiography is questionable, particularly with apical hypertrophy

Cardiac catheterization (to determine the degree of outflow obstruction, cardiac hemodynamics, the anatomy and diastolic characteristics of the left ventricle, and the coronary anatomy)Other imaging modalities that may be useful include the following:

Electrocardiographic findings:• ST-T wave abnormalities and

LVH• Axis deviation (right or left)• Conduction abnormalities (P-

R prolongation, bundle-branch block)

• Sinus bradycardia with ectopic atrial rhythm

• Atrial enlargement• Abnormal and prominent Q

wave in the anterior precordial and lateral limb leads, short P-R interval with QRS suggestive of preexcitation, atrial fibrillation (poor prognostic sign), and a P-wave abnormality (all uncommon)

Hypertrophic Cardiomyopathy: Diagnosis

Left ventricular hypertrophy

The electrocardiogram demonstrates a number of features of left ventricular hypertrophy (LVH). The QRS complex is slightly widened (about 0.11 sec), the frontal plane axis is leftward, tall R waves are present in multiple leads, and ST-T changes (formerly called a "strain" pattern) are present. The somewhat prominent P waves also raise consideration of left atrial abnormality. Slow R wave progression (V1-V3) is non-specific and may be seen with LVH, or with multiple other factors. Underlying anteroseptal MI is not excluded.

Pharmacologic therapy for HCM may include the following:• Beta blockers• Calcium channel

blockers• Diltiazem,

amiodarone, and disopyramide (rarely)

• Antitussives to prevent coughing

The following caveats are warranted:• Avoid inotropic

drugs if possible• Avoid nitrates and

sympathomimetic amines, except in concomitant coronary artery disease

• Avoid digitalis• Use diuretics with

caution

HCM: Management

HOCM: ManagementSurgical and catheter-based therapeutic options include the following:

• Left ventricular myomectomy• Mitral valve replacement• Permanent pacemaker implantation• Catheter septal ablation• Placement of an implantable cardioverte defibrillator

Restrictive cardiomyopathy (RCM)

The World Health Organization (WHO) defines RCM as a myocardial disease characterized by restrictive filling and reduced diastolic volume of either or both ventricles with normal or near-normal systolic function and wall thickness.

Increased interstitial fibrosis may be present.This disease may be idiopathic or associated with other diseases (e.g., amyloidosis and endomyocardial disease with or without hypereosinophilia). The course of RCM varies, depending on the pathology and treatment, but is often unsatisfactory.

• The importance of an accurate diagnosis of RCM is to distinguish this condition from constrictive pericarditis, a clinically and hemodynamically similar entity.

• It also presents with restrictive physiology but is frequently curable by surgical intervention.

• This distinction is difficult to make but crucial because the treatment options and prognoses for the 2 conditions differ drastically.

•  Echocardiography and cardiac magnetic resonance imaging have been reported to be comparable in their ability to differentiate RCM from constrictive pericarditis.

• Idiopathic RCM may be caused by: – EMF – Loeffler eosinophilic

endomyocardial disease.

Restrictive cardiomyopathy (RCM)

Secondary Restrictive cardiomyopathy(RCM)

Secondary restrictive cardiomyopathy may be caused by:HemochromatosisAmyloidosis (the most common cause of RCM in the United States)SarcoidosisProgressive systemic sclerosis (scleroderma)Carcinoid heart diseaseGlycogen storage disease of the heartRadiationMetastatic malignancyAnthracycline toxicity

• Restrictive cardiomyopathy (RCM) has no specific treatment.

• Therapies directed at individual causes of RCM have been proven to be effective.

• Examples of this include corticosteroids for sarcoidosis and Loeffler endocarditis,

• Endocardiectomy for endomyocardial fibrosis and Loeffler endocarditis,

• Phlebotomy and chelation for hemochromatosis

• Chemotherapy for amyloidosis.

• The mainstays of medical treatment include diuretics, vasodilators, and angiotensin-converting enzyme inhibitors (ACEs) as indicated, as well as anticoagulation (if not contraindicated).

• In selected patients, permanent pacing, LVAD therapy, and transplantation (heart or heart-liver) may be considered.

Treatment: Secondary Restrictive cardiomyopathy

• The disease is a type of non-ischemic cardiomyopathy that involves primarily the right ventricle

• It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibro fatty replacement of the right ventricular myocardium

• Arrhythmias originating in the right ventricle.

• It is seen predominantly in males, and 30-50% of cases have a familial distribution.

• Patients frequently present with palpitations or other symptoms due to right ventricular outflow tract (RVOT) tachycardia (a type of monomorphic ventricular tachycardia).

• Up to 80% of individuals with ARVD present with syncope or sudden cardiac death.

Arrhythmogenic right ventricular dysplasia

Major Criteria• Right ventricular

dysfunction– Severe dilatation and

reduction of RV ejection fraction with little or no LV impairment

– Localized RV aneurysms

– Severe segmental dilatation of the RV

• Tissue characterization– Fibrofatty

replacement of myocardium on endomyocardial biopsy

• Conduction abnormalities– Inverted waves in V1 -

V3

– Localized prolongation (>110 ms) of QRS in V1 - V3

• Family history– Familial disease

confirmed on autopsy or surgery

Diagnostic Criteria: There is no pathognomonic feature of ARVD. The diagnosis of ARVD is based on a combination of major and minor criteria. To make a diagnosis of ARVD requires either 2 major criteria or 1 major and 2 minor criteria or 4 minor criteria.

Minor Criteria• Right ventricular

dysfunction– Mild global RV

dilatation and/or reduced ejection fraction with normal LV.

– Mild segmental dilatation of the RV

– Regional RV hypokinesis

• Tissue characterization• Conduction

abnormalities– Inverted T waves in

V2 and V3 in an individual over 12 years old, in the absence of a right bundle branch block (RBBB)

– Late potentials on signal averaged EKG.

– Ventricular tachycardia with a left bundle branch block(LBBB) morphology

– Frequent PVCs (> 1000 PVCs / 24 hours)

• Family history– Family history of

sudden cardiac death before age 35

– Family history of ARVD

The goal of management of ARVD is to decrease the incidence of sudden cardiac death. 

A certain subgroup of individuals with ARVD are at high risk for sudden cardiac and include:

• Young age• Competitive sports

activity

• Malignant familial history

• Extensive RV disease with decreased right ventricular ejection fraction.

• Left ventricular involvement

• Syncope• Episode of ventricular

arrhythmia

Management: Arrhythmogenic right ventricular dysplasia

Pharmacologic management

• Pharmacologic management of ARVD involves arrhythmia suppression and prevention of thrombus formation.

• Beta blocker  is the most effective antiarrhythmic agent.

• Individual may benefit from long term anticoagulation with warfarin to prevent thrombus formation and subsequent pulmonary embolism.

Catheter ablation• Catheter ablation may

be used to treat intractable VT. It has a 60-90% success rate.

• Unfortunately, recurrence is common (60% recurrence rate ).

• Indications for catheter ablation include drug-refractory VT and frequent recurrence of VT after ICD placement, causing frequent discharges of the ICD.

Management: Arrhythmogenic right ventricular dysplasia

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