Format

Send to

Choose Destination
See comment in PubMed Commons below
Pediatr Cardiol. 2013 Jun;34(5):1244-6. doi: 10.1007/s00246-012-0367-8. Epub 2012 May 26.

A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

Author information

1
Department of Pediatrics, MCHK-PE, Tripler Army Medical Center, 1 Jarrett White Road, Honolulu, HI 96859, USA. Kelley.vonelten@gmail.com

Abstract

Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

PMID:
22639003
DOI:
10.1007/s00246-012-0367-8
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center