Children (Mar 2021)

A Case of Prenatally Diagnosed Uhl’s Anomaly with Absent Pulmonary Valve Leaflets and Dysplastic Tricuspid Valve

  • Taehong Kim,
  • Hoon Ko,
  • Joung-Hee Byun,
  • Hyoung Doo Lee,
  • Hyungtae Kim,
  • Kwangho Choi,
  • Joo-Young Na

DOI
https://doi.org/10.3390/children8030190
Journal volume & issue
Vol. 8, no. 3
p. 190

Abstract

Read online

Uhl’s anomaly is a very rare malformation of unknown cause, characterized by complete or partial absence of the right ventricular myocardium. The cardiac malformation causes progressive right heart failure, increased right-sided cardiac pressure, massive peripheral edema, and ascites. Patients usually present in infancy and rarely survive to adulthood. Previously, diagnosis was made at post-mortem evaluation, but advances in cardiac imaging now permit diagnosis during fetal life. We report a case of Uhl’s anomaly in a newborn baby imaged at 23 + 3 weeks of gestation by fetal echocardiography. There was an aneurysmally dilated thin-walled right ventricle with hypertrophy of the right ventricular apical muscles, the tricuspid valve was dysplastic, and the pulmonary valve leaflets were absent.

Keywords