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.

单词	cardiomyopathy, familial hypertrophic, type 2
释义	cardiomyopathy, familial hypertrophic, type 2 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.
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