Korean J Pediatr.  2015 Jul;58(7):256-262. 10.3345/kjp.2015.58.7.256.

The strong association of left-side heart anomalies with Kabuki syndrome

• Yoon JK
• Ahn KJ
• Kwon BS
• Kim GB
• Bae EJ
• Noh CI
• Ko JM

• KMID: 2140667
• DOI: http://doi.org/10.3345/kjp.2015.58.7.256

Abstract

PURPOSE
Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center.
METHODS
A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome.
RESULTS
The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome.
CONCLUSION
Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

Keyword

Kabuki syndrome; Multiple abnormalities; Congenital heart defects

MeSH Terms

Abnormalities, Multiple
Aortic Coarctation
Aortic Valve Stenosis
Cause of Death
Counseling
Diagnosis
Early Diagnosis
Follow-Up Studies
Genetic Testing
Heart Defects, Congenital
Heart Diseases
Heart*
Humans
Hypoplastic Left Heart Syndrome
Intellectual Disability
Mitral Valve Stenosis
Prevalence
Retrospective Studies