Study note

Structural changes and pathogenesis of dilated cardiomyopathy

THE CONTEXT
Dilated cardiomyopathy encompasses a heterogeneous group of conditions involving ventricular dilatation and impaired contraction.

Ventricular, valvular and histological changes

FeatureDetails
Ventricular involvement
The left ventricle and often the right ventricle show dilatation and impaired contraction.
Left ventricular structure
Mass is increased, while wall thickness is normal or reduced.
Valve dysfunction
Dilatation of the valve rings can cause functional mitral and tricuspid incompetence.
Histology
Changes are variable and include myofibrillary loss, interstitial fibrosis and T-cell infiltrates.

Inherited disease and skeletal muscle associations

FeatureDetails
Inheritance
At least 25% of cases are inherited as an autosomal dominant trait, and various single-gene mutations have been identified.
Affected proteins
Most mutations affect proteins in the myocyte cytoskeleton. Examples listed include dystrophin, lamin A and C, emerin and metavinculin.
Skeletal muscle abnormalities
Many mutations are also associated with abnormalities of skeletal muscle.
Muscular dystrophies
The X-linked skeletal muscular dystrophies Becker and Duchenne are also associated with cardiomyopathy.

Other causes and proposed mechanisms

FeatureDetails
Alcohol
Alcohol may be an important cause in some patients.
Post-myocarditis mechanism
A late autoimmune reaction to viral myocarditis is thought to cause dilated cardiomyopathy in a substantial subgroup.
Advanced HIV infection
A similar mechanism is believed to account for myocardial involvement, which occurs in up to 10% of patients with advanced human immunodeficiency virus infection.
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