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Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy
Authors
Maria Teresa Basurte-Elorz
Antoni Bayés-Genís
+35 more
Francisco J. Bermudez-Jimenez
Ramon Brugada
Han G. Brunner
Vicente Climent
Fernando Dominguez
Luis Escobar-Lopez
Maria Angeles Espinosa
Matteo Dal Ferro
Maria Gallego-Delgado
Jose M. Garcia-Pinilla
Pablo García-Pavia
Ana García-Álvarez
Michiel T.H.M. Henkens
Stephane R.B. Heymans
Uxua Idiazabal
Ingrid P.C. Krapels
Jose M. Larrañaga-Moreira
Javier Lopez
Bernardo López-Abel
Marco Merlo
Luisa Mestroni
Jesus G. Mirelis
María Victoria Mogollón-Jiménez
Juan Pablo Ochoa
Alessia Paldino
Julian Palomino-Doza
Maria Luisa Peña-Peña
Tomas Ripoll-Vera
Jose F Rodriguez-Palomares
Ana Royuela
Maria Sabater-Molina
Gianfranco Sinagra
Universitat Autònoma de Barcelona
Job A.J. Verdonschot
Denise Zaffalon
Publication date
1 January 2022
Publisher
Doi
Cite
Abstract
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;80:1115-1126) © 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation
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Last time updated on 22/06/2024