New ECG biomarkers and sex-stratified models for the detection of Arrhythmogenic Cardiomyopathy with left ventricular involvement

Arrhythmogenic Cardiomyopathy (ACM) is a rare cardiac genetic disease that can lead to severe cardiac structural and electrical abnormalities. Diagnosing ACM includes several ECG biomarkers without sex distinction, and it remains challenging, particularly in cases involving the left ventricle (LV) a...

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Detalhes bibliográficos
Autores: Jiménez-Serrano, Santiago, Sanz-Sánchez, Jorge, Gilabert, Yolanda Vives, Millet, José, Zorio, Esther, Castells, Francisco
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2025
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/394674
Acesso em linha:http://hdl.handle.net/10261/394674
https://api.elsevier.com/content/abstract/scopus_id/85210287402
Access Level:Acceso aberto
Palavra-chave:Arrhythmogenic Cardiomyopathy diagnostic
Classification
ECG
Feature selection
Logistic Regression
Principal Components Analysis
Sex stratification
Vectorcardiogram
Descrição
Resumo:Arrhythmogenic Cardiomyopathy (ACM) is a rare cardiac genetic disease that can lead to severe cardiac structural and electrical abnormalities. Diagnosing ACM includes several ECG biomarkers without sex distinction, and it remains challenging, particularly in cases involving the left ventricle (LV) and biventricular (biV) forms. Our study aims to improve the yield of current criteria in patients with LV and biV ACM involvement by introducing innovative ECG-based biomarkers that ultimately feed different Logistic Regression models to identify the disease. Additionally, we aim to find differences in the performance of the biomarkers and the classification models through a sex-focused stratification. In this work, 87 individuals (age 43 ± 18 years, 53 % female) underwent cardiological evaluations as part of family screening for ACM, resulting in 41 ACM cases and 46 healthy relatives. We extracted 87 parameters from each ECG, analyzed their statistical significance, and performed different feature selections to optimize each classification model, maximizing G-metric values. We identified 30 significant ECG biomarkers common to both sexes, 9 specific to women, and 15 specific to men. Classification results reached a maximum G value of 0.84 (sensitivity 0.85, specificity 0.83) for the whole cohort, 0.88 (sensitivity 0.87, specificity 0.89) for the male cohort, and 0.81 (sensitivity 0.83, specificity 0.79) for the female cohort. These findings suggest that specific disease ECG biomarkers and sex-stratified models may enhance ACM detection, particularly in males. After validation in larger cohorts, the proposed ECG biomarkers and machine learning approaches might improve diagnostic accuracy for ACM during family screening.