• Clinical science

Cardiomyopathy

Summary

Cardiomyopathies are diseases of the muscle tissue of the heart. Types of cardiomyopathies include dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathy.

Dilated cardiomyopathy (DCM) is the most common type of cardiomyopathy. Although most cases are idiopathic, a number of conditions (e.g., coronary artery disease, wet beriberi), infections (e.g., Coxsackie B virus, Chagas disease), and substances (e.g., heavy drinking, cocaine) have been identified as causes. In DCM, the decreased ventricular contractility of the dilated left ventricle (LV) leads to failure of the left and eventually right heart with decreased ventricular output. Isolated dilation and subsequent decrease in contractility of right ventricle (RV) is rare. Dilation can be seen on echocardiography, the most important diagnostic tool for all cardiomyopathies. Therapy involves management of congestive heart failure and treatment of the underlying condition.

Restrictive cardiomyopathy (RCM) is caused by the proliferation of connective tissue, with subsequent atrial enlargement (but normal ventricles). Like DCM, RCM causes left and right heart failure. The ejection fraction is usually normal, but diastolic filling is reduced on echocardiography. While a number of drugs offer symptomatic relief, the overall prognosis remains poor.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) primarily affects the right ventricle and is characterized by fibrofatty replacement of myocardium, which causes myocardial thinning and subsequent ventricular dilation. Although the hallmark finding is arrhythmia, symptoms are highly variable. Because management depends greatly on individual factors, such as the extent of the disease, there is no single best course of treatment. All patients should avoid strenuous exercise.

Arrhythmia-induced cardiomyopathy is a very rare type of cardiomyopathy. It is caused by long-standing arrhythmia and typically affects the left ventricle. Features include palpitations, syncope, and signs of arrhythmia on ECG. Progression to left heart failure is possible in severe cases. Treatment involves antiarrhythmics such as beta blockers for rhythmic control.

See also hypertrophic cardiomyopathy.

Overview of major types of cardiomyopathy

Dilated cardiomyopathy

Hypertrophic cardiomyopathy

Restrictive cardiomyopathy
Etiology

Pathophysiology

Distinctive clinical features
Echocardiography LV cavity size
  • Significantly increased
  • Decreased
  • Decreased
EF
  • Significantly decreased
  • Normal
  • Normal or increased
Wall thickness
  • Normal or decreased
  • Significantly increased
  • Usually increased
Additional findings
Other characteristics
  • Most common cardiomyopathy
  • Second most common cardiomyopathy
  • Most common cause of sudden heart failure in athletes and teenagers

Dilated cardiomyopathy

Epidemiology

  • Incidence: 6/100,000 per year (most common cardiomyopathy)
  • Sex: > (approx. 3:1)

Etiology [2]

To remember some high-yield secondary causes of dilated cardiomyopathy, think ABCCCDD: Alcohol use, Beriberi, Cocaine, Coxsackie B virus, Chagas, Doxorubicin/Daunorubicin

Pathophysiology

Clinical features

Diagnostics

Approach

  • Diagnostic approach to DCM aims to:
    1. Investigate the underlying cause with confirming either the secondary cause or idiopathic disease
    2. Assess cardiac function
    3. Assess structural remodeling
  • Specific investigations are guided by suspected underlying cause or complications

Investigations [4]

Pathology

Treatment

Complications

Restrictive cardiomyopathy

Epidemiology

  • Least common cardiomyopathy (accounts for ∼ 5% of all cardiomyopathies) [6]

Etiology [2]

Remember the etiology of restrictive cardiomyopathy with “PLEASe Help!”: Postradiation/Postsurgery fibrosis, Löffler endocarditis, Endocardial fibroelastosis, Amyloidosis, Sarcoidosis, Hemochromatosis)

Pathophysiology

Clinical features

Diagnostics [12]

Treatment [12]

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Epidemiology

  • Most common in young adults (mean age at diagnosis: ∼ 30 years) [14]
  • Prevalence: 1:1,000–2,000 [15]

Etiology

Pathophysiology

Clinical features

Diagnostics [15][14][17]

Approach

ARVC is diagnosed based on the AHA criteria which include the following features:

  1. Dysfunction and structural abnormalities of RV (can be revealed by echocardiography, MRI, or RV angiography)
  2. Histological characteristics (require myocardial biopsy)
  3. Abnormal repolarization (diagnosed with ECG)
  4. Depolarization/conduction abnormalities (diagnosed with ECG)
  5. Arrhythmias (diagnosed with ECG)
  6. Family history (confirmation of ARVC in a relative either by criteria, pathological examination in surgery or autopsy, or by genetic testing)

Findings

Management [17]

Unclassified cardiomyopathies

Left ventricular noncompaction [19]

Arrhythmia-induced cardiomyopathy [20][21]