Utilizing family history for familial dilated cardiomyopathy

Familial dilated cardiomyopathy (FDC) is a genetic disorder characterized by ventricles of the heart being dilated resulting in impaired contraction. Most people affected with FDC die in early adulthood. Still, collection of family histories and testing for genetic predisposition in patients suspected of FDC may result in more effective ways to manage the disease and encourage healthy behaviors. A comprehensive family history from a proband at risk for FDC was collected and analyzed by a genetic counselor. The genetic counselor assisted in identifying the best candidate for Dilated Cardiomyopathies (DCM) genetic testing, which tests for 27 genes associated with FDC. Among the 27 genes, 18 are associated with sudden cardiac death. The risk for unaffected members and children was also calculated. The actions of the family members regarding their FDC predisposition was observed, recorded, and analyzed. We observed an autosomal dominant inheritance pattern. We observed that 63% of the deaths in generations I-IV were results of DCM symptoms and 5% were from clinically diagnosed DCM. The family history and pedigree strongly indicate a heritable form of DCM. We believe that the results will impact family members' decisions about cardiac health. Family history collection and interpretation, as well as genetic testing, should be an essential part of cardiac diagnoses, management, and treatment, especially for familial dilated cardiomyopathy. The results of the genetics tests may motivate family members to engage in healthy behaviors such as seeking earlier screening for FDC and following a healthy lifestyle.