cardiomyopathy, familial hypertrophic, type 3

cardiomyopathy, familial hypertrophic, type 3

A genetically and clinically heterogeneous hereditary heart disorder (OMIM:115196) characterised by (usually) asymmetric ventricular hypertrophy, often involving the interventricular septum.

Clinical findings
Dyspnoea, syncope, collapse, palpitations, and chest pain readily provoked by exercise. The disorder has inter- and intrafamilial variability, ranging from benign and asymptomatic to malignant with high risk of cardiac failure and sudden cardiac death.
 
Molecular pathology
Caused by defects of TPM1, which encodes beta-tropomyosin, an actin filament-binding protein that plays a central role in regulating striated muscle contraction.
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