Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation
Article first published online: 14 FEB 2013
© 2013 Wiley Periodicals, Inc.
Volume 30, Issue 5, pages e70–e73, September/October 2013
How to Cite
Mutlu, G. Y., Ramot, Y., Babaoglu, K., Altun, G., Zlotogorski, A. and Molho-Pessach, V. (2013), Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation. Pediatric Dermatology, 30: e70–e73. doi: 10.1111/pde.12085
- Issue published online: 10 SEP 2013
- Article first published online: 14 FEB 2013
- The Authority for Research and Development, Hebrew University of Jerusalem
- Hadassah-Hebrew University joint research fund
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.