RT Journal Article
T1 Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
A1 Escobar-Lopez, Luis
A1 Ochoa, Juan Pablo
A1 Royuela, Ana
A1 Verdonschot, Job A J
A1 Dal-Ferro, Matteo
A1 Espinosa, Maria Angeles
A1 Sabater-Molina, Maria
A1 Gallego-Delgado, Maria
A1 Larrañaga-Moreira, Jose M
A1 Garcia-Pinilla, Jose M
A1 Basurte-Elorz, Maria Teresa
A1 Rodriguez-Palomares, Jose F
A1 Climent, Vicente
A1 Bermudez-Jimenez, Francisco J
A1 Mogollon-Jimenez, Maria Victoria
A1 Lopez, Javier
A1 Peña-Peña, Maria Luisa
A1 Garcia-Alvarez, Ana
A1 Lopez-Abel, Bernardo
A1 Ripoll-Vera, Tomas
A1 Palomino-Doza, Julian
A1 Bayes-Genis, Antoni
A1 Brugada, Ramon
A1 Idiazabal, Uxua
A1 Mirelis, Jesus G
A1 Dominguez, Fernando
A1 Henkens, Michiel T H M
A1 Krapels, Ingrid P C
A1 Brunner, Han G
A1 Paldino, Alessia
A1 Zaffalon, Denise
A1 Mestroni, Luisa
A1 Sinagra, Gianfranco
A1 Heymans, Stephane R B
A1 Merlo, Marco
A1 Garcia-Pavia, Pablo
K1 dilated cardiomyopathy
K1 genetic variant
K1 genetics
K1 genotype
K1 predictor
AB  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.
PB Elsevier Inc.
YR 2022
FD 2022-09-20
LK http://hdl.handle.net/10668/22282
UL http://hdl.handle.net/10668/22282
LA en
NO Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, et al. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy. J Am Coll Cardiol. 2022 Sep 20;80(12):1115-1126.
DS RISalud
RD Oct 4, 2025