This report describes familial restrictive cardiomyopathy 3, which is one of several forms of heart disease associated with the human gene encoding the cardiac muscle isoform of troponin T (TNNT2) (see MIM:191045). Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, TNNT2-related' (FBhh0000419).
[updated Oct. 2016 by FlyBase; FBrf0222196]
Restrictive cardiomyopathy tends to affect older adults. The heart's ventricles become rigid because abnormal tissue, such as scar tissue, replaces the normal heart muscle. Consequently, the ventricles cannot relax normally and fill with blood, and the atria become enlarged. Blood flow in the heart is reduced over time. This can lead to problems such as heart failure or arrhythmias. [from America Heart Association (http://www.heart.org/HEARTORG/), Restrictive Cardiomyopathy; 2016.11.02]
Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. [from Genetics Home Reference, familial restrictive cardiomyopathy; 2016.11.02]
[CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3](https://omim.org/entry/612422)
[TROPONIN T2, CARDIAC; TNNT2](https://omim.org/entry/191045)
Familial restrictive cardiomyopathy 3 (RCM3) is caused by heterozygous mutation in the cardiac muscle isoform of troponin T (TNNT2).
