Article
Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.
The Israel Medical Association journal : IMAJ - 1 Nov 2014
Arad Michael, Monserrat Lorenzo, Haron-Khun Shiraz, Seidman Jonathan G, Seidman Christine E, Arbustini Eloisa, Glikson Michael, Freimark Dov
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a familial disease with autosomal dominant inheritance and age-dependent penetrance, caused primarily by mutations of sarcomere genes. Because the clinical variability of HCM is related to its genetic heterogeneity, genetic studies may improve the diagnosis and prognostic evaluation in HCM. OBJECTIVES: To analyze the impact of genetic diagnosis on the clinical...
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