dc.contributor.author | Escobar-Lopez, Luis | |
dc.contributor.author | Ochoa, Juan Pablo | |
dc.contributor.author | Royuela, Ana | |
dc.contributor.author | Verdonschot, Job A J | |
dc.contributor.author | Dal Ferro, Matteo | |
dc.contributor.author | Espinosa, Maria Angeles | |
dc.contributor.author | Sabater-Molina, Maria | |
dc.contributor.author | Gallego-Delgado, Maria | |
dc.contributor.author | Larrañaga-Moreira, Jose M | |
dc.contributor.author | Garcia-Pinilla, Jose M | |
dc.contributor.author | Basurte-Elorz, Maria Teresa | |
dc.contributor.author | Rodríguez-Palomares, José F | |
dc.contributor.author | Climent, Vicente | |
dc.contributor.author | Bermudez-Jimenez, Francisco J | |
dc.contributor.author | Mogollón-Jiménez, María Victoria | |
dc.contributor.author | Lopez, Javier | |
dc.contributor.author | Peña-Peña, Maria Luisa | |
dc.contributor.author | Garcia-Alvarez, Ana | |
dc.contributor.author | López-Abel, Bernardo | |
dc.contributor.author | Ripoll-Vera, Tomas | |
dc.contributor.author | Palomino-Doza, Julian | |
dc.contributor.author | Bayes-Genis, Antoni | |
dc.contributor.author | Brugada, Ramon | |
dc.contributor.author | Idiazabal, Uxua | |
dc.contributor.author | Mirelis, Jesus G | |
dc.contributor.author | Dominguez, Fernando | |
dc.contributor.author | Henkens, Michiel T H M | |
dc.contributor.author | Krapels, Ingrid P C | |
dc.contributor.author | Brunner, Han G | |
dc.contributor.author | Paldino, Alessia | |
dc.contributor.author | Zaffalon, Denise | |
dc.contributor.author | Mestroni, Luisa | |
dc.contributor.author | Sinagra, Gianfranco | |
dc.contributor.author | Heymans, Stephane R B | |
dc.contributor.author | Merlo, Marco | |
dc.contributor.author | Garcia-Pavia, Pablo | |
dc.date.accessioned | 2023-03-17T14:48:33Z | |
dc.date.available | 2023-03-17T14:48:33Z | |
dc.date.issued | 2022-09-20 | |
dc.identifier.citation | J Am Coll Cardiol. 2022 Sep 20;80(12):1115-1126 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/15675 | |
dc.description.abstract | Although 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.sponsorship | This 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.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject.mesh | Cardiomyopathy, Dilated | es_ES |
dc.subject.mesh | Ventricular Dysfunction, Left | es_ES |
dc.subject.mesh | Cohort Studies | es_ES |
dc.subject.mesh | Genotype | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.subject.mesh | Risk Factors | es_ES |
dc.title | Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 36109106 | es_ES |
dc.format.volume | 80 | es_ES |
dc.format.number | 12 | es_ES |
dc.format.page | 1115 | es_ES |
dc.identifier.doi | 10.1016/j.jacc.2022.06.040 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) | es_ES |
dc.contributor.funder | Fundación ProCNIC | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) | es_ES |
dc.contributor.funder | Dutch Heart Foundation (Holanda) | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1558-3597 | es_ES |
dc.relation.publisherversion | 10.1016/j.jacc.2022.06.040 | es_ES |
dc.identifier.journal | Journal of the American College of Cardiology | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Miocardiopatías Hereditarias | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Investigación traslacional en insuficiencia cardiaca e hipertensión pulmonar | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI17/01941 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI18/0004 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI19/01283 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI20/0320 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CEX2020-001041-S | es_ES |