Utilizing family history for familial dilated cardiomyopathy
Monday, November 4, 2013
: 8:45 a.m. - 9:00 a.m.
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.
Chronic disease management and prevention
Conduct evaluation related to programs, research, and other areas of practice
Planning of health education strategies, interventions, and programs
Identify individuals at risk with cardiomyopathies through family history collection.
Keyword(s): Heart Disease, Genetics
Presenting author's disclosure statement:
Qualified on the content I am responsible for because: I have been conducting research on familial dilated cardiomyopathy for approximately one year. Among my scientific interests has been the implementation of standard measures for family history collection regarding heart disease.
Any relevant financial relationships? No
I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines,
and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed
in my presentation.