restrictive cardiomyopathy, familial, type 1

restrictive cardiomyopathy, familial, type 1

A phenotypically variable hereditary heart disorder (OMIM:155210) characterised by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal/near-normal wall thickness and systolic function.

Molecular pathology
Caused by defects of TNNI3, which encodes type-3 troponin I protein (TnI-cardiac), exclusively expressed in heart muscle.