Double outlet right ventricle in the setting of hypoplastic left ventricle, mitral atresia, interruption of aortic arch, and uncommon intra-atrial anomalies in Trisomy 18

Echocardiography. 2021 Aug;38(8):1359-1364. doi: 10.1111/echo.15142. Epub 2021 Jul 19.

Abstract

We present the case of a 1-day-old newborn, with prenatal diagnosis of Trisomy 18 and complex congenital heart disease. Echocardiography at birth showed double outlet right ventricle with non-committed interventricular communication in the setting of mitral atresia, hypoplastic left ventricle, and patent aortic root with bicuspid aortic valve and type A interrupted aortic arch. Adding anomalies were the typical congenital polyvalvular disease, Chiari network, and left intra-atrial shelf dividing morphologically left atrium. This is a rare combination of cardiac anatomical malformations in Trisomy 18.

Keywords: bicuspid aortic valve; congenital heart disease; echocardiography.

Publication types

  • Case Reports

MeSH terms

  • Aorta, Thoracic / diagnostic imaging
  • Double Outlet Right Ventricle*
  • Heart Atria
  • Heart Defects, Congenital* / diagnostic imaging
  • Heart Ventricles / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Trisomy 18 Syndrome