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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 
1   Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Amanda Thum Welter
1   Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Gabriel Dotta Abech
1   Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Carla Bastos da Costa Almeida
1   Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Caio Seiti Mestre Okabayashi
1   Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Kerolainy Alves Gadelha
2   Undergraduate Program in Biomedicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Paulo Ricardo Gazzola Zen
3   Department 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
4   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Rafael Fabiano Machado Rosa
3   Department 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
4   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
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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


Publikationsverlauf

Eingereicht: 25. März 2020

Angenommen: 28. Mai 2020

Artikel online veröffentlicht:
27. Juli 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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