Article
Genetic testing in the management of relatives of patients with hypertrophic cardiomyopathy.
Folia biologica - 1 Jan 2014
Tomašov P, Minárik M, Zemánek D, Čadová P, Homolová S, Čurilka K, Pěnička M, Benešová L, Belšánová B, Gregor P, Veselka J
Abstract excerpt
Hypertrophic cardiomyopathy is the most common genetic cardiac disease with vast genetic heterogeneity. First-degree relatives of patients with HCM are at 50% risk of inheriting the disease-causing mutation. Genetic testing is helpful in identifying the relatives harbouring the mutations. When genetic testing is not available, relatives need to be examined regularly. We tested a cohort of 99 unrelated patients...
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