Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation

Mutlu G. Y., Ramot Y., Babaoglu K., ALTUN G., Zlotogorski A., Molho-Pessach V.

PEDIATRIC DERMATOLOGY, vol.30, no.5, 2013 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 5
  • Publication Date: 2013
  • Doi Number: 10.1111/pde.12085
  • Journal Name: PEDIATRIC DERMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Kocaeli University Affiliated: Yes

Abstract

We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.