open access

Vol 20, No 2 (2013)
Review paper
Published online: 2013-04-05
Get Citation

Congenital heart defects in Kabuki syndrome

Shi-Min Yuan
DOI: 10.5603/CJ.2013.0023
·
Cardiol J 2013;20(2):121-124.

open access

Vol 20, No 2 (2013)
Review articles
Published online: 2013-04-05

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.

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.
Get Citation

Keywords

cardiac surgical procedures, congenital heart defects, Kabuki syndrome

About this article
Title

Congenital heart defects in Kabuki syndrome

Journal

Cardiology Journal

Issue

Vol 20, No 2 (2013)

Article type

Review paper

Pages

121-124

Published online

2013-04-05

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

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