A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome

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 comm...

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Bibliographic Details
Published in:Pediatric cardiology 2013-06, Vol.34 (5), p.1244-1246
Main Authors: von Elten, Kelley, Sawyer, Taylor, Lentz-Kapua, Sarah, Kanis, Adam, Studer, Matthew
Format: Article
Language:English
Subjects:
Cardiac Surgery
Cardiology
Case Report
Congenital heart disease
Diagnosis, Differential
Diseases
Fatal Outcome
Gene mutations
Genetic aspects
Heart
Heart diseases
Humans
Infant, Newborn
Karyotyping
Male
Medicine
Medicine & Public Health
Neonatology
Phenotype
Ultrasonography, Prenatal
Vascular Surgery
Wolf-Hirschhorn Syndrome - diagnosis
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Summary: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.
ISSN:0172-0643
1432-1971
DOI:10.1007/s00246-012-0367-8