The genetics of dilated cardiomyopathy

Abstract

More than 40 different individual genes have been implicated in the inheritance of dilated cardiomyopathy. For a subset of these genes, mutations can lead to a spectrum of cardiomyopathy that extends to hypertrophic cardiomyopathy and left ventricular noncompaction. In nearly all cases, there is an increased risk of arrhythmias. With some genetic mutations, extracardiac manifestations are likely to be present. The precise genetic cause can usually not be discerned from the cardiac and/or extracardiac manifestations and requires molecular genetic diagnosis for prognostic determination and cardiac care. Newer technologies are influencing genetic testing, especially cardiomyopathy genetic testing, wherein an increased number of genes are now routinely being tested simultaneously. Although this approach to testing multiple genes is increasing the diagnostic yield, the analysis of multiple genes in one test is also resulting in a large amount of genetic information of unclear significance. Genetic testing is highly useful in the care of patients and families, as it guides diagnosis, influences care and aids in prognosis. However, the large amount of benign human genetic variation may complicate genetic results and often requires a skilled team to accurately interpret the findings.