Hypertrophic cardiomyopathy
General: Usually presents with angina, exertional dyspnea, or sudden unexpected death in a young otherwise healthy adult. Caused by any one of over 400 known mutations in one of several genes encoding sarcomeric proteins, that involving the beta-myosin heavy chain being most common (~35%), but myosin binding protein C (~20%) and cardiac troponin T (~15%) are also significant. Screening of first degree relatives is recommended.
Gross: Asymmetric ventricular hypertrophy, usually affecting the septum more prominently than elsewhere. May be fibrous endocardial plaques in the left ventricular outflow tract and/or mitral valve thickening.
Microscopic: Characterized by myocyte disarray and myocyte hypertrophy, but interstitial fibrosis and/or arterial abnormalities are common.
Differential Diagnosis:
Stains:
- Positive:
- Negative:
- Suggested, focused panel:
(Lefkowitch: AP Board Review)
Images:
Cases:
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