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

Autor:	Brandão GR; Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Welter AT; Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Abech GD; Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Almeida CBDC; Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Okabayashi CSM; Undergraduate Program in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Gadelha KA; Undergraduate Program in Biomedicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Zen PRG; 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.; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil., Rosa RFM; 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.; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Jazyk:	angličtina
Zdroj:	Journal of pediatric genetics [J Pediatr Genet] 2020 Jul 27; Vol. 10 (4), pp. 319-322. Date of Electronic Publication: 2020 Jul 27 (Print Publication: 2021).
DOI:	10.1055/s-0040-1714360
Abstrakt:	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. Competing Interests: Conflict of Interest None declared. (Thieme. All rights reserved.)
Databáze:	MEDLINE
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