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.