cardiomyopathy dilated type 1V

cardiomyopathy dilated type 1V

A congenital disorder (OMIM:613697) characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Molecular pathology
Caused by defects in PSEN2, which encodes presenilin 2, a putative catalytic subunit of the gamma-secretase complex.