cardiomyopathy, familial hypertrophic, type 7
cardiomyopathy, familial hypertrophic, type 7A phenotypically variable hereditary heart disorder (OMIM:613690) characterised by asymmetic ventricular hypertrophy.
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.
Caused by defects of TNNI3, which encodes type-3 troponin I protein, TnI-cardiac (exclusively expressed in heart muscle).