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