cardiomyopathy, familial hypertrophic, type 3

A genetically and clinically heterogeneous hereditary heart disorder (OMIM:115196) characterised by (usually) asymmetric ventricular hypertrophy, often involving the interventricular septum.
Clinical findings
Dyspnoea, syncope, collapse, palpitations, and chest pain readily provoked 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 TPM1, which encodes beta-tropomyosin, an actin filament-binding protein that plays a central role in regulating striated muscle contraction.

单词	cardiomyopathy, familial hypertrophic, type 3
释义	cardiomyopathy, familial hypertrophic, type 3 cardiomyopathy, familial hypertrophic, type 3 A genetically and clinically heterogeneous hereditary heart disorder (OMIM:115196) characterised by (usually) asymmetric ventricular hypertrophy, often involving the interventricular septum. Clinical findings Dyspnoea, syncope, collapse, palpitations, and chest pain readily provoked 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 TPM1, which encodes beta-tropomyosin, an actin filament-binding protein that plays a central role in regulating striated muscle contraction.
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