Arrhythmogenic Cardiomyopathy

General: Rare (~3%) cause of sudden death in the U.S., but 13-20% in Italy. Approximately 50% of all cases are autosomal dominant, with at least four genes implicated. Rare autosomal recessive variants occur (including Naxos disease, Carvahal syndrome). Clinical cardiomyopathy or arrhythmia is necessary to distinguish this from other causes of fatty infiltration (such as diabetes or steroid therapy).

Gross: Thinned &/or dilated affected area, diminished contractile function, dilated outflow tract, and fatty replacement of the myocardium. Typically involves the right ventricle, but may also involve the left ventricle &/or septum.

Microscopic: Characterized by myocyte loss and fatty replacement, with possible myocyte apoptosis and focal lymphocytic infiltrates.

Differential Diagnosis:

• Diabetes
• Steroid therapy

Stains:

• Positive:
• Negative:
• Suggested, focused panel:

(Lefkowitch: AP Board Review)

Images:


Cases:

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