Brandão Gabriela Rangel, Welter Amanda Thum, Abech Gabriel Dotta, Almeida Carla Bastos da Costa, Okabayashi Caio Seiti Mestre, Gadelha Kerolainy Alves, Zen Paulo Ricardo Gazzola, Rosa Rafael Fabiano Machado
Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Undergraduate Program in Biomedicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
J Pediatr Genet. 2020 Jul 27;10(4):319-322. doi: 10.1055/s-0040-1714360. eCollection 2021 Dec.
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.
21三体综合征被认为是最常见的染色体非整倍体疾病,而先天性心脏病(CHD)在这些患者中高度流行,且与发病率和死亡率相关。埃布斯坦畸形(EA)是一种罕见的先天性心脏病,其特征为三尖瓣发育异常伴隔叶下移。在此,我们描述了一名患有21三体综合征且伴有EA的患者,并基于文献综述讨论这两种疾病之间的关联。我们得出结论,这两种疾病同时出现被认为是罕见的。这些个体最常在出生和儿童期被诊断出来,而且通常预后良好,正如我们的患者所示,这也是一般EA患者的典型情况。然而,需要注意的是,也可能存在电生理异常。