restrictive cardiomyopathy, familial, type 1
restrictive cardiomyopathy, familial, type 1A 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.
Caused by defects of TNNI3, which encodes type-3 troponin I protein (TnI-cardiac), exclusively expressed in heart muscle.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.