cardiomyopathy, familial hypertrophic, type 2
cardiomyopathy, familial hypertrophic, type 2A phenotypically variable hereditary heart disorder (OMIM:115195) 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 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.