Article
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018
Ko Carol, Arscott Patricia, Concannon Maryann, Saberi Sara, Day Sharlene M, Yashar Beverly M, Helms Adam S
Abstract excerpt
PurposeHypertrophic cardiomyopathy (HCM) is considered a hereditary autosomal dominant condition, but genetic testing is positive in only half of patients. In patients with negative genetic tests, the inheritance pattern and utility of family screening are unclear.MethodsSubjects with HCM were prospectively enrolled in a registry. A survey at a median follow-up of 4 years determined the yield of family...
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