| Literature DB >> 28138913 |
M Alejandra Restrepo-Cordoba1, Oscar Campuzano2,3,4, Tomás Ripoll-Vera5, Marta Cobo-Marcos1,4, Irene Mademont-Soler2,4, José M Gámez5, Fernando Dominguez1,4,6, Esther Gonzalez-Lopez1,4,5, Laura Padron-Barthe1,4,6, Enrique Lara-Pezzi4,6, Luis Alonso-Pulpon1,4, Ramon Brugada2,3,4,7, Pablo Garcia-Pavia8,9,10,11.
Abstract
This study sought to determine the usefulness of genetic testing to predict evolution in hypertrophic cardiomyopathy (HCM) and to assess the role of genetic testing in clinical practice. Genetic results of 100 HCM patients tested for mutations in ≥10 HCM-causing genes were evaluated. Patients were classified as with poor (group A) or favourable (group B) clinical course. Forty-five pathogenic mutations (PM) were identified in 28 patients (56 %) from group A and in 23 (46 %) from group B (p = 0.317). Only 40 patients (40 %) exhibited PM that had been previously reported and only 15 (15 %) had PM reported in ≥10 individuals. PM associated with poor prognosis were identified in just five patients from group A (10 %). Genetic findings are not useful to predict prognosis in most HCM patients. By contrast, real-world data reinforce the usefulness of genetic testing to provide genetic counselling and to enable cascade genetic screening.Entities:
Keywords: Family screening; Genetics; Hypertrophic cardiomyopathy; Mutations; Prognosis
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Year: 2017 PMID： 28138913 DOI： 10.1007/s12265-017-9730-8
Source DB: PubMed Journal: J Cardiovasc Transl Res ISSN： 1937-5387 Impact factor: 4.132