cardiomyopathy, familial hypertrophic, type 2

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cardiomyopathy, familial hypertrophic, type 2

A phenotypically variable hereditary heart disorder (OMIM:115195) characterised by asymmetic ventricular hypertrophy.

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 with high risk of cardiac failure and sudden cardiac death.
 
Molecular pathology
Caused by defects of TNNT2, which encodes type-2 troponin T, a subunit of the troponin complex that regulates muscle contraction in response to alterations in intracellular Ca2+ ion concentration.