Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.

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...

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Detalles Bibliográficos
Autores: 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
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/15675
Acceso en línea:http://hdl.handle.net/20.500.12105/15675
Access Level:acceso abierto
Palabra clave:Cardiomyopathy, Dilated
Ventricular Dysfunction, Left
Cohort Studies
Genotype
Humans
Risk Factors
Descripción
Sumario: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.

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