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oai:repisalud.isciii.es:20.500.12105/156752024-09-27T08:32:28Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc Escobar-Lopez, Luis author Ochoa, Juan Pablo author Royuela, Ana author Verdonschot, Job A J author Dal Ferro, Matteo author Espinosa, Maria Angeles author Sabater-Molina, Maria author Gallego-Delgado, Maria author Larrañaga-Moreira, Jose M author Garcia-Pinilla, Jose M author Basurte-Elorz, Maria Teresa author Rodríguez-Palomares, José F author Climent, Vicente author Bermudez-Jimenez, Francisco J author Mogollón-Jiménez, María Victoria author Lopez, Javier author Peña-Peña, Maria Luisa author Garcia-Alvarez, Ana author López-Abel, Bernardo author Ripoll-Vera, Tomas author Palomino-Doza, Julian author Bayes-Genis, Antoni author Brugada, Ramon author Idiazabal, Uxua author Mirelis, Jesus G author Dominguez, Fernando author Henkens, Michiel T H M author Krapels, Ingrid P C author Brunner, Han G author Paldino, Alessia author Zaffalon, Denise author Mestroni, Luisa author Sinagra, Gianfranco author Heymans, Stephane R B author Merlo, Marco author Garcia-Pavia, Pablo author 2022-09-20 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. J Am Coll Cardiol. 2022 Sep 20;80(12):1115-1126 http://hdl.handle.net/20.500.12105/15675 36109106 10.1016/j.jacc.2022.06.040 1558-3597 Journal of the American College of Cardiology Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.