cardiomyopathy, familial hypertrophic, type 9

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cardiomyopathy, familial hypertrophic, type 9

A hereditary heart disorder (OMIM:613765) characterised by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum.

Clinical findings
Dyspnoea, syncope, collapse, palpitations, and chest pain triggered by exercise. The disorder has inter- and intrafamilial variability, ranging from benign and asymptomatic to malignant forms with high risk of cardiac failure and sudden cardiac death.

Molecular pathology
Caused by defects of TTN, which encodes a critical protein in striated muscle.