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, cilt.30, 2013 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 30 Konu: 5
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1111/pde.12085
  • Dergi Adı: PEDIATRIC DERMATOLOGY

Özet

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.