• Media type: E-Article
  • Title: Rare congenital heart disease in a patient with Down's syndrome: a case report
  • Contributor: Vogel, Karolyne; Tessari, Patricia; Silva, Jéssica; Floriano, Maria; Borges, Vinicius; Pabis, Julia; Simões, Mona
  • Published: Residencia Pediatrica, 2021
  • Published in: Residência Pediátrica, 11 (2021) 3
  • Language: Not determined
  • DOI: 10.25060/residpediatr-2021.v11n3-207
  • ISSN: 2236-6814
  • Keywords: General Medicine
  • Origination:
  • Footnote:
  • Description: Ebsteins anomaly, in addition to being a rare congenital heart disease, is infrequently associated with Down’s syndrome. In this paper, it is described a case report of a newborn with this association, who presented with persistent cyanosis. The echocardiogram showed anomalous insertion of tricuspid valve leaflet with moderate valvar insufficiency, having a good outcome at the end of hospitalization. Ebstein’s anomaly is a cardiac modification related with the position and structure of the tricuspid valve and has high mortality in the neonatal period. The Down syndrome is a chromosomal alteration accompanied by major congenital changes, with a high prevalence of cardiac abnormalities. An association of Ebsteins anomaly with other syndromes, such as the one reported, and extracardiacs abnormalities is very uncommon and subject of few case reports. Therefore, giving the predisposition of patients with Down syndrome to develop cardiac problems, it must be emphasized that these patients should be systematically submitted to complete cardiac evaluation, with echocardiographic examination. Knowing their anatomical differences, hemodynamic variables and associated malformations are an imperative for a good management of its bearer, and, therefore, its longevity.
  • Access State: Open Access