cardiomyopathy, dilated, type 1Y

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cardiomyopathy, dilated, type 1Y

A genetically and clinically heterogeneous hereditary heart disorder (OMIM:611878) characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure, arrhythmia and risk of premature 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.