Article
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
Journal of the American Heart Association - 21 Apr 2020
Mazzarotto Francesco, Olivotto Iacopo, Boschi Beatrice, Girolami Francesca, Poggesi Corrado, Barton Paul J R, Walsh Roddy
Abstract excerpt
Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by 30 years of research into its genetic etiology. Although pathogenic variants are often detected in patients and used to identify at-risk relatives, the effectiveness of genetic testing has been hampered by ambiguous genetic associations (yielding uncertain and potentially false-positive results), difficulties...
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