Identification of clinically relevant phenotypes in patients with Ebstein anomaly

Rodrigo Cabrera, Marta Catalina Miranda-Fernández, Victor Manuel Huertas-Quiñones, Marisol Carreño, Ivonne Pineda, Carlos M. Restrepo, Claudia Tamar Silva, Rossi Quero, Juan David Cano, Diana Carolina Manrique, Camila Camacho, Sebastián Tabares, Alberto García, Néstor Sandoval, Karen Julieth Moreno Medina, Rodolfo José Dennis Verano

Resultado de la investigación: Contribución a RevistaArtículo

Resumen

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.

Idioma originalEnglish (US)
Páginas (desde-hasta)343-348
Número de páginas6
PublicaciónClinical Cardiology
Volumen41
N.º3
DOI
EstadoPublished - mar 1 2018

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Citar esto

Cabrera, R., Miranda-Fernández, M. C., Huertas-Quiñones, V. M., Carreño, M., Pineda, I., Restrepo, C. M., ... Dennis Verano, R. J. (2018). Identification of clinically relevant phenotypes in patients with Ebstein anomaly. Clinical Cardiology, 41(3), 343-348. https://doi.org/10.1002/clc.22870
Cabrera, Rodrigo ; Miranda-Fernández, Marta Catalina ; Huertas-Quiñones, Victor Manuel ; Carreño, Marisol ; Pineda, Ivonne ; Restrepo, Carlos M. ; Silva, Claudia Tamar ; Quero, Rossi ; Cano, Juan David ; Manrique, Diana Carolina ; Camacho, Camila ; Tabares, Sebastián ; García, Alberto ; Sandoval, Néstor ; Moreno Medina, Karen Julieth ; Dennis Verano, Rodolfo José. / Identification of clinically relevant phenotypes in patients with Ebstein anomaly. En: Clinical Cardiology. 2018 ; Vol. 41, N.º 3. pp. 343-348.
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title = "Identification of clinically relevant phenotypes in patients with Ebstein anomaly",
abstract = "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.",
author = "Rodrigo Cabrera and Miranda-Fern{\'a}ndez, {Marta Catalina} and Huertas-Qui{\~n}ones, {Victor Manuel} and Marisol Carre{\~n}o and Ivonne Pineda and Restrepo, {Carlos M.} and Silva, {Claudia Tamar} and Rossi Quero and Cano, {Juan David} and Manrique, {Diana Carolina} and Camila Camacho and Sebasti{\'a}n Tabares and Alberto Garc{\'i}a and N{\'e}stor Sandoval and {Moreno Medina}, {Karen Julieth} and {Dennis Verano}, {Rodolfo Jos{\'e}}",
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doi = "10.1002/clc.22870",
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Cabrera, R, Miranda-Fernández, MC, Huertas-Quiñones, VM, Carreño, M, Pineda, I, Restrepo, CM, Silva, CT, Quero, R, Cano, JD, Manrique, DC, Camacho, C, Tabares, S, García, A, Sandoval, N, Moreno Medina, KJ & Dennis Verano, RJ 2018, 'Identification of clinically relevant phenotypes in patients with Ebstein anomaly', Clinical Cardiology, vol. 41, n.º 3, pp. 343-348. https://doi.org/10.1002/clc.22870

Identification of clinically relevant phenotypes in patients with Ebstein anomaly. / Cabrera, Rodrigo; Miranda-Fernández, Marta Catalina; Huertas-Quiñones, Victor Manuel; Carreño, Marisol; Pineda, Ivonne; Restrepo, Carlos M.; Silva, Claudia Tamar; Quero, Rossi; Cano, Juan David; Manrique, Diana Carolina; Camacho, Camila; Tabares, Sebastián; García, Alberto; Sandoval, Néstor; Moreno Medina, Karen Julieth; Dennis Verano, Rodolfo José.

En: Clinical Cardiology, Vol. 41, N.º 3, 01.03.2018, p. 343-348.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Identification of clinically relevant phenotypes in patients with Ebstein anomaly

AU - Cabrera, Rodrigo

AU - Miranda-Fernández, Marta Catalina

AU - Huertas-Quiñones, Victor Manuel

AU - Carreño, Marisol

AU - Pineda, Ivonne

AU - Restrepo, Carlos M.

AU - Silva, Claudia Tamar

AU - Quero, Rossi

AU - Cano, Juan David

AU - Manrique, Diana Carolina

AU - Camacho, Camila

AU - Tabares, Sebastián

AU - García, Alberto

AU - Sandoval, Néstor

AU - Moreno Medina, Karen Julieth

AU - Dennis Verano, Rodolfo José

PY - 2018/3/1

Y1 - 2018/3/1

N2 - 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.

AB - 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.

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Cabrera R, Miranda-Fernández MC, Huertas-Quiñones VM, Carreño M, Pineda I, Restrepo CM y otros. Identification of clinically relevant phenotypes in patients with Ebstein anomaly. Clinical Cardiology. 2018 mar 1;41(3):343-348. https://doi.org/10.1002/clc.22870