Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
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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, López-Abel Bernardo, Ripoll-Vera Tomas, Palomino-Doza Julian, Bayes-Genis Antoni, Brugada Ramon, Idiazabal Uxua, Mirelis Jesus G, Dominguez Fernando, 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
Аннотация
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.