This report describes general characteristics of the group of diseases classified as familial restrictive cardiomyopathy (RCM). Familial RCM is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of RCM subtypes, as defined by OMIM, can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models. In many cases, a single gene in human has been implicated in more than one form of cardiomyopathy. Reports of experimental results in flies have been organized by causative gene.
[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]
