title: Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.
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.
authors.affiliation: Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Alejandra Restrepo-Cordoba
authors.affiliation: Cardiovascular Genetics Centre, Institut d'Investigació Biomèdica de Girona (IDIBGi), Girona, Spain.|Department of Medical Science, Medical School, Universitat de Girona (UdG), Girona, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Department of Cardiology, Hospital Son Llatzer & IdISPa, Mallorca, Spain.
authors.forename: Tomás
authors.initials: T
authors.lastname: Ripoll-Vera
authors.affiliation: Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Cobo-Marcos
authors.affiliation: Cardiovascular Genetics Centre, Institut d'Investigació Biomèdica de Girona (IDIBGi), Girona, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Mademont-Soler
authors.affiliation: Department of Cardiology, Hospital Son Llatzer & IdISPa, Mallorca, Spain.
authors.forename: José M
authors.initials: JM
authors.lastname: Gámez
authors.affiliation: Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.|Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Dominguez
authors.affiliation: Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.|Department of Cardiology, Hospital Son Llatzer & IdISPa, Mallorca, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Gonzalez-Lopez
authors.affiliation: Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.|Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Padron-Barthe
authors.affiliation: Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.|Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
authors.forename: Enrique
authors.initials: E
authors.lastname: Lara-Pezzi
authors.affiliation: Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Alonso-Pulpon
authors.affiliation: Cardiovascular Genetics Centre, Institut d'Investigació Biomèdica de Girona (IDIBGi), Girona, Spain.|Department of Medical Science, Medical School, Universitat de Girona (UdG), Girona, Spain.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.|Department of Cardiology, Hospital Josep Trueta, Girona, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
authors.affiliation: Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain. pablogpavia@yahoo.es.|Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. pablogpavia@yahoo.es.|Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain. pablogpavia@yahoo.es.|Francisco de Vitoria University, Madrid, Spain. pablogpavia@yahoo.es.
authors.forename: Pablo
authors.initials: P
authors.lastname: Garcia-Pavia
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D005819:Genetic Markers
keywords: Family screening; Genetics; Hypertrophic cardiomyopathy; Mutations; Prognosis