Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association

Gabriela Rangel Brandão; Amanda Thum Welter; Gabriel Dotta Abech; Carla Bastos da Costa Almeida; Caio Seiti Mestre Okabayashi; Kerolainy Alves Gadelha; Paulo Ricardo Gazzola Zen; Rafael Fabiano Machado Rosa

doi:10.1055/s-0040-1714360

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2021; 10(04): 319-322
DOI: 10.1055/s-0040-1714360

Case Report

Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association

Gabriela Rangel Brandão

¹Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Amanda Thum Welter

¹Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Gabriel Dotta Abech

¹Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Carla Bastos da Costa Almeida

¹Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Caio Seiti Mestre Okabayashi

¹Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Kerolainy Alves Gadelha

²Undergraduate Program in Biomedicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Paulo Ricardo Gazzola Zen

³Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Misericórdia de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

⁴Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Rafael Fabiano Machado Rosa

³Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Misericórdia de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

⁴Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

› Institutsangaben

Abstract

Trisomy 21 is considered the most common chromosomal aneuploidy, and congenital heart disease (CHD) is highly prevalent and relevant to the morbidity and mortality of these patients. Ebstein anomaly (EA) is a rare CHD characterized by tricuspid valve dysplasia with inferior septal leaflet displacement. Herein, we described a patient with trisomy 21 who presented with EA and discuss the association between the two conditions based on a literature review. We conclude that the concomitant occurrence of both conditions is considered to be rare. These individuals are most frequently diagnosed during birth and childhood, and they usually have a good prognosis, as observed with our patient and is typical for EA patients in general. However, it is important to be aware that electrophysiologic anomalies may also be present.

Keywords

trisomy 21 - congenital heart disease - Ebstein anomaly

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Referenzen

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