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Identification of clinically relevant phenotypes in patients with Ebstein anomaly

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Cabrera, Rodrigo
Miranda-Fernández, Marta-Catalina
Huertas Quiñones, Victor Manuel
Carreño, Marisol
Pineda, Ivonne
Restrepo Fernández, Carlos Martín
Silva, Claudia Tamar
Quero, Rossi
Cano, Juan David
Cabrera, Rodrigo



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Background: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. Hypothesis: Phenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors. Methods: A comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out. The most prevalent comorbidities and distinct subgroups within the patient cohort were identified through cluster analysis. Results: The most prevalent cardiac comorbidities identified were atrial septal defect (61%), Wolff-Parkinson-White syndrome (WPW; 27%), and right ventricular outflow tract obstruction (25%). Cluster analysis showed that patients can be classified into 2 distinct subgroups with defined phenotypes that determine disease severity and survival. Patients in cluster 1 represented a particularly homogeneous subgroup with a milder spectrum of disease, including only patients with WPW and/or supraventricular tachycardia (SVT). Cluster 2 included patients with more diverse cardiovascular comorbidities. Conclusions: This study represents one of the largest phenotypic characterizations of EA patients reported. The data show that EA is a heterogeneous disease, very frequently associated with cardiovascular and noncardiovascular comorbidities. Patients with WPW and SVT represent a homogeneous subgroup that presents with a less severe spectrum of disease and better survival when adequately managed. This should be considered when searching for genetic causes of EA and in the clinical setting. © 2018 Wiley Periodicals, Inc.
Palabras clave
Furosemide , Spironolactone , Adolescent , Catheter Ablation , Child , Cluster Analysis , Cohort Analysis , Colombia , Cross-Sectional Study , Disease Severity , Ebstein Anomaly , Endocardial Cushion Defect , Fallot Tetralogy , Fontan Procedure , Health Care Facility , Heart Atrium Septum Defect , Heart Failure , Heart Right Bundle Branch Block , Heart Right Ventricle Outflow Tract Obstruction , Heart Transplantation , Human , Infant , Major Clinical Study , Male , Mortality , Newborn , Observational Study , Pacemaker Implantation , Patent Ductus Arteriosus , Patent Foramen Ovale , Patient Referral , Phenotype , Preschool Child , Prognosis , Pulmonary Valve Atresia , Pulmonary Valve Replacement , Pulmonary Valve Stenosis , School Child , Supraventricular Tachycardia , Survival Rate , Tricuspid Valve Repair , Tricuspid Valve Replacement , Wolff Parkinson White Syndrome , Ebstein Anomaly , Echocardiography , Electrocardiography , Heart Septum Defect , Phenotype , Supraventricular Tachycardia , Trends , Wolff Parkinson White Syndrome , Young Adult , Adolescent , Child , Child , Colombia , Cross-Sectional Studies , Ebstein Anomaly , Echocardiography , Electrocardiography , Heart Septal Defects , Infant , Infant , Male , Phenotype , Survival Rate , Tachycardia , Wolff-Parkinson-White Syndrome , Young Adult , Furosemida , La espironolactona , Adolescente , Adulto
Congenital heart defect , Ebstein anomaly , Epidemiology , Adult , Article , Comorbidity , Female , Middle Aged , Adult , Comorbidity , Female , Humans , Middle Aged