cardiomyopathy, dilated, type 1D

cardiomyopathy, dilated, type 1D

A phenotypically variable hereditary heart disorder (OMIM:601494) characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure (CHF), arrhythmia and premature death.

Molecular pathology
Caued by defects of TNNT2, which encodes type-2 troponin, a subunit of thetroponin complex that regulates muscle contraction in response to alterations in intracellular Ca2+ ion concentration.
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