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Journal of Cardiovascular Translational Research
Published in: Journal of Cardiovascular Translational Research 1/2017

01-02-2017 | Original Article

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data

Authors: M. Alejandra Restrepo-Cordoba, Oscar Campuzano, Tomás Ripoll-Vera, Marta Cobo-Marcos, Irene Mademont-Soler, José M Gámez, Fernando Dominguez, Esther Gonzalez-Lopez, Laura Padron-Barthe, Enrique Lara-Pezzi, Luis Alonso-Pulpon, Ramon Brugada, Pablo Garcia-Pavia

Published in: Journal of Cardiovascular Translational Research | Issue 1/2017

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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.
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Metadata
Title
Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data
Authors
M. Alejandra Restrepo-Cordoba
Oscar Campuzano
Tomás Ripoll-Vera
Marta Cobo-Marcos
Irene Mademont-Soler
José M Gámez
Fernando Dominguez
Esther Gonzalez-Lopez
Laura Padron-Barthe
Enrique Lara-Pezzi
Luis Alonso-Pulpon
Ramon Brugada
Pablo Garcia-Pavia
Publication date
01-02-2017
Publisher
Springer US
Published in
Journal of Cardiovascular Translational Research / Issue 1/2017
Print ISSN: 1937-5387
Electronic ISSN: 1937-5395
DOI
https://doi.org/10.1007/s12265-017-9730-8

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