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

被引：1

作者：

Brandao, Gabriela Rangel ^{[1
]}

Welter, Amanda Thum ^{[1
]}

Abech, Gabriel Dotta ^{[1
]}

da Costa Almeida, Carla Bastos ^{[1
]}

Mestre Okabayashi, Caio Seiti ^{[1
]}

Gadelha, Kerolainy Alves ^{[2
]}

Gazzola Zen, Paulo Ricardo ^{[3
,4
]}

Machado Rosa, Rafael Fabiano ^{[3
,4
]}

机构：

[1] Univ Fed Ciencias Saude Porto Alegre, Undergrad Program Med, Porto Alegre, RS, Brazil

[2] Univ Fed Ciencias Saude Porto Alegre, Undergrad Program Biomed, Porto Alegre, RS, Brazil

[3] Univ Fed Ciencias Saude Porto Alegre, Dept Internal Med, Irmandade Santa Casa Misericordia Porto Alegre, Clin Genet, Porto Alegre, RS, Brazil

[4] Univ Fed Ciencias Saude Porto Alegre, Grad Program Pathol, Porto Alegre, RS, Brazil

来源：

JOURNAL OF PEDIATRIC GENETICS | 2021年 / 10卷 / 04期

关键词：

trisomy; 21; congenital heart disease; Ebstein anomaly; CONGENITAL HEART-DISEASE; DOWN-SYNDROME; TRICUSPID-VALVE; CHILDREN; MALFORMATION; GENETICS; ADULTS;

D O I：

10.1055/s-0040-1714360

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：319 / 322

页数：4

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