Congenital heart defects in Kabuki syndrome

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.