dc.contributor.author | Escobar-Lopez, Luis | |
dc.contributor.author | Ochoa, Juan Pablo | |
dc.contributor.author | García Pavía, Pablo | |
dc.date.accessioned | 2023-04-04T09:15:23Z | |
dc.date.available | 2023-04-04T09:15:23Z | |
dc.date.issued | 2022 | |
dc.identifier.issn | 0735-1097 | spa |
dc.identifier.uri | https://hdl.handle.net/10641/3331 | |
dc.description.abstract | Background
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.
Objectives
This study sought to develop and externally validate a score that predicts the probability for a positive genetic test result (G+) in DCM/LVSD.
Methods
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.
Results
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).
Conclusions
The Madrid Genotype Score is an accurate tool to predict a G+ result in DCM/LVSD. | spa |
dc.language.iso | eng | spa |
dc.publisher | Journal of the American College of Cardiology | spa |
dc.rights | Atribución-NoComercial-SinDerivadas 3.0 España | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.title | Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy. | spa |
dc.type | journal article | spa |
dc.type.hasVersion | AM | spa |
dc.rights.accessRights | open access | spa |
dc.description.extent | 1456 KB | spa |
dc.identifier.doi | 10.1016/j.jacc.2022.06.040 | spa |
dc.relation.publisherversion | https://www.jacc.org/doi/10.1016/j.jacc.2022.06.040 | spa |