{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:11:33Z","timestamp":1758161493329,"version":"3.44.0"},"reference-count":37,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p>","DOI":"10.1055\/s-0040-1714360","type":"journal-article","created":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T18:58:46Z","timestamp":1595876326000},"page":"319-322","source":"Crossref","is-referenced-by-count":0,"title":["Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7224-0383","authenticated-orcid":false,"given":"Gabriela Rangel","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda Thum","family":"Welter","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel Dotta","family":"Abech","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla Bastos da Costa","family":"Almeida","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caio Seiti Mestre","family":"Okabayashi","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerolainy Alves","family":"Gadelha","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Biomedicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Ricardo Gazzola","family":"Zen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Miseric\u00f3rdia de Porto Alegre, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"},{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael Fabiano Machado","family":"Rosa","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Miseric\u00f3rdia de Porto Alegre, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"},{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,7,27]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"crossref","first-page":"585","DOI":"10.2143\/AC.63.5.2033225","article-title":"Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years","volume":"63","author":"K Nisli","year":"2008","journal-title":"Acta Cardiol"},{"key":"ref2","first-page":"481","article-title":"Down syndrome and lacrimal system disorders","volume":"66","author":"S Matayoshi","year":"2003","journal-title":"Arq Bras Oftalmol"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s12929-015-0138-y","article-title":"Down syndrome: an insight of the disease","volume":"22","author":"A Asim","year":"2015","journal-title":"J Biomed Sci"},{"issue":"05","key":"ref4","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1590\/S0104-42302009000500017","article-title":"Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil","volume":"55","author":"E C Pavarino Bertelli","year":"2009","journal-title":"Rev Assoc Med Bras"},{"key":"ref5","first-page":"218","article-title":"Paciente con anomal\u00eda de Ebstein y s\u00edndrome de Down. 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