Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/15675
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
Escobar-Lopez, Luis | Ochoa, Juan Pablo | Royuela, Ana | Verdonschot, Job A J | Dal Ferro, Matteo | Espinosa, Maria Angeles | Sabater-Molina, Maria | Gallego-Delgado, Maria | Larrañaga-Moreira, Jose M | Garcia-Pinilla, Jose M | Basurte-Elorz, Maria Teresa | Rodríguez-Palomares, José F | Climent, Vicente | Bermudez-Jimenez, Francisco J | Mogollón-Jiménez, María Victoria | Lopez, Javier | Peña-Peña, Maria Luisa | Garcia-Alvarez, Ana CNIC | López-Abel, Bernardo | Ripoll-Vera, Tomas | Palomino-Doza, Julian | Bayes-Genis, Antoni | Brugada, Ramon CNIC | Idiazabal, Uxua | Mirelis, Jesus G | Dominguez, Fernando CNIC | Henkens, Michiel T H M | Krapels, Ingrid P C | Brunner, Han G | Paldino, Alessia | Zaffalon, Denise | Mestroni, Luisa | Sinagra, Gianfranco | Heymans, Stephane R B | Merlo, Marco | Garcia-Pavia, Pablo CNIC
J Am Coll Cardiol. 2022 Sep 20;80(12):1115-1126
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.
Cardiomyopathy, Dilated | Ventricular Dysfunction, Left | Cohort Studies | Genotype | Humans | Risk Factors
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