1. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy Preliminary recommendations for clinical practice
- Author
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Crispell, Kathy A., Wray, Anita, Ni, Hanyu, Nauman, Deirdre J., and Hershberger, Ray E.
- Abstract
OBJECTIVESThis study aimed to characterize the clinical profile of familial dilated cardiomyopathy (FDC) in the families of four index patients initially diagnosed with idiopathic dilated cardiomyopathy (IDC) and to provide clinical practice recommendations for physicians dealing with these diseases.BACKGROUNDRecent evidence indicates that approximately one-half of patients diagnosed with IDC will have FDC, a genetically transmissible disease, but the clinical profile of families screened for FDC in the U.S. has not been well documented. Additionally, recent ethical guidelines suggest increased responsibilities in caring for patients with newly found genetic cardiovascular disease.METHODSAfter identification of four families with FDC, we undertook clinical screening including medical history, physical examination, electocardiogram and echocardiogram. Diagnostic criteria for FDC-affected status of asymptomatic family members was based on left ventricular enlargement (LVE). Subjects with confounding cardiovascular diagnoses or body mass indices >35 were excluded.RESULTSWe identified 798 living members from the four FDC pedigrees, and screened 216 adults and 129 children (age
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