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dc.contributor.authorEscobar-Lopez, Luis
dc.contributor.authorOchoa, Juan Pablo
dc.contributor.authorRoyuela, Ana
dc.contributor.authorVerdonschot, Job A J
dc.contributor.authorDal Ferro, Matteo
dc.contributor.authorEspinosa, Maria Angeles
dc.contributor.authorSabater-Molina, Maria
dc.contributor.authorGallego-Delgado, Maria
dc.contributor.authorLarrañaga-Moreira, Jose M
dc.contributor.authorGarcia-Pinilla, Jose M
dc.contributor.authorBasurte-Elorz, Maria Teresa
dc.contributor.authorRodríguez-Palomares, José F
dc.contributor.authorCliment, Vicente
dc.contributor.authorBermudez-Jimenez, Francisco J
dc.contributor.authorMogollón-Jiménez, María Victoria
dc.contributor.authorLopez, Javier
dc.contributor.authorPeña-Peña, Maria Luisa
dc.contributor.authorGarcia-Alvarez, Ana 
dc.contributor.authorLópez-Abel, Bernardo
dc.contributor.authorRipoll-Vera, Tomas
dc.contributor.authorPalomino-Doza, Julian
dc.contributor.authorBayes-Genis, Antoni
dc.contributor.authorBrugada, Ramon 
dc.contributor.authorIdiazabal, Uxua
dc.contributor.authorMirelis, Jesus G
dc.contributor.authorDominguez, Fernando 
dc.contributor.authorHenkens, Michiel T H M
dc.contributor.authorKrapels, Ingrid P C
dc.contributor.authorBrunner, Han G
dc.contributor.authorPaldino, Alessia
dc.contributor.authorZaffalon, Denise
dc.contributor.authorMestroni, Luisa
dc.contributor.authorSinagra, Gianfranco
dc.contributor.authorHeymans, Stephane R B
dc.contributor.authorMerlo, Marco
dc.contributor.authorGarcia-Pavia, Pablo
dc.identifier.citationJ Am Coll Cardiol. 2022 Sep 20;80(12):1115-1126es_ES
dc.description.abstractAlthough genotyping allows family screening and influences risk-stratification in patients with nonischemic dilated cardiomyopathy (DCM) or isolated left ventricular systolic dysfunction (LVSD), its result is negative in a significant number of patients, limiting its widespread adoption. This study sought to develop and externally validate a score that predicts the probability for a positive genetic test result (G+) in DCM/LVSD. Clinical, electrocardiogram, and echocardiographic variables were collected in 1,015 genotyped patients from Spain with DCM/LVSD. Multivariable logistic regression analysis was used to identify variables independently predicting G+, which were summed to create the Madrid Genotype Score. The external validation sample comprised 1,097 genotyped patients from the Maastricht and Trieste registries. A G+ result was found in 377 (37%) and 289 (26%) patients from the derivation and validation cohorts, respectively. Independent predictors of a G+ result in the derivation cohort were: family history of DCM (OR: 2.29; 95% CI: 1.73-3.04; P < 0.001), low electrocardiogram voltage in peripheral leads (OR: 3.61; 95% CI: 2.38-5.49; P < 0.001), skeletal myopathy (OR: 3.42; 95% CI: 1.60-7.31; P = 0.001), absence of hypertension (OR: 2.28; 95% CI: 1.67-3.13; P < 0.001), and absence of left bundle branch block (OR: 3.58; 95% CI: 2.57-5.01; P < 0.001). A score containing these factors predicted a G+ result, ranging from 3% when all predictors were absent to 79% when ≥4 predictors were present. Internal validation provided a C-statistic of 0.74 (95% CI: 0.71-0.77) and a calibration slope of 0.94 (95% CI: 0.80-1.10). The C-statistic in the external validation cohort was 0.74 (95% CI: 0.71-0.78). The Madrid Genotype Score is an accurate tool to predict a G+ result in DCM/LVSD.es_ES
dc.description.sponsorshipThis work was supported by grants from the Instituto de Salud Carlos III (ISCIII) (PI17/01941, PI18/0004, PI19/01283, PI20/0320) (co-funded by European Regional Development Fund/European Social Fund "A way to make Europe"/"Investing in your future"). The CNIC is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoa Centers of Excellence program (CEX2020-001041-S). This study was also supported by the Netherlands Cardiovascular Research Initiative, an initiative with support from the Dutch Heart Foundation, DCVA Double Dosis 2020B005. The Hospital Universitario Puerta de Hierro, the Hospital Universitario Virgen de la Arrixaca and the Azienda Sanitaria Universitaria Giuliano-Isontina are members of the European Reference Network for rare, low-prevalence, and complex diseases of the heart (ERN GUARD-Heart). Dr Ochoa is an employee of Health in Code. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.es_ES
dc.publisherElsevier es_ES
dc.subject.meshCardiomyopathy, Dilatedes_ES
dc.subject.meshVentricular Dysfunction, Left es_ES
dc.subject.meshCohort Studies es_ES
dc.subject.meshGenotype es_ES
dc.subject.meshHumans es_ES
dc.subject.meshRisk Factors es_ES
dc.titleClinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.es_ES
dc.typejournal articlees_ES
dc.rights.licenseAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.contributor.funderInstituto de Salud Carlos III es_ES
dc.contributor.funderUnión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) es_ES
dc.contributor.funderFundación ProCNIC es_ES
dc.contributor.funderMinisterio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) es_ES
dc.contributor.funderDutch Heart Foundation (Holanda) es_ES
dc.identifier.journalJournal of the American College of Cardiologyes_ES
dc.repisalud.orgCNICCNIC::Grupos de investigación::Miocardiopatías Hereditariases_ES
dc.repisalud.orgCNICCNIC::Grupos de investigación::Investigación traslacional en insuficiencia cardiaca e hipertensión pulmonares_ES
dc.rights.accessRightsopen accesses_ES

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Attribution-NonCommercial-NoDerivatives 4.0 Internacional
This item is licensed under a: Attribution-NonCommercial-NoDerivatives 4.0 Internacional