Congenital heart defects in Kabuki syndrome.

TitleCongenital heart defects in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2013
AuthorsYuan S-M
JournalCardiol J
Volume20
Issue2
Pagination121-4
Date Published2013
ISSN1897-5593
Abstract

BACKGROUND: Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insuffi cient elucidations. METHODS: Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenital heart defects in the patients with KS were summarized. RESULTS: Congenital heart defects were one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. Left-sided obstructions/aortic dilation and septal defects were the fi rst two types of anomalies, accounting up to 46.1% and 32.9%, respectively. The most common congenital heart defects were coarctation of the aorta, and atrial and ventricular septal defects. Fifteen (19.7%) patients received surgical repair of congenital heart defects at a mean age of 0.8 ± 1.3 years. CONCLUSIONS: Congenital heart defects are one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. About 20% of the patients warranted surgical repair of the heart defects. Patients with KS require close follow-up in terms of their etiology, clinical presentations and long-term prognosis.

DOI10.5603/CJ.2013.0023
Alternate JournalCardiol J
Citation Key1266
PubMed ID23558868