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Congenital heart defects in Kabuki syndrome
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Abstract
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.
Abstract
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.
Keywords
cardiac surgical procedures, congenital heart defects, Kabuki syndrome
About this articleTitle
Congenital heart defects in Kabuki syndrome
Journal
Issue
Article type
Review Article
Pages
121-124
Published online
2013-04-05
Page views
3224
Article views/downloads
3637
DOI
10.5603/CJ.2013.0023
Bibliographic record
Cardiol J 2013;20(2):121-124.
Keywords
cardiac surgical procedures
congenital heart defects
Kabuki syndrome
Authors
Shi-Min Yuan
