cardiomyopathy dilated type 1U

cardiomyopathy dilated type 1U

A congenital disorder (OMIM:613694) characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure, arrhythmia and risk of premature death.
Molecular pathology
Caused by defects in PSEN1, which encodes presenilin 1, a putative catalytic subunit of the gamma-secretase complex.