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The strong association of left-side heart anomalies with Kabuki syndrome
Ja Kyoung Yoon1, Kyung Jin Ahn1, Bo Sang Kwon1
1Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Insights
Kabuki syndrome often involves left-sided heart defects, including hypoplastic left heart syndrome. Early diagnosis through genetic testing is crucial for managing this rare condition.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, developmental delays, and congenital anomalies.
- Cardiac anomalies are a known feature of Kabuki syndrome, but their specific patterns in the Korean population require further elucidation.
Purpose of the Study:
- To analyze the spectrum of cardiac anomalies and clinical features in Korean patients with Kabuki syndrome.
- To highlight the prevalence and types of congenital heart disease associated with Kabuki syndrome.
Main Methods:
- A retrospective analysis of 13 patients diagnosed with Kabuki syndrome at a single tertiary center.
- Review of clinical data, including physical examinations, congenital anomalies, genetic testing results, and patient outcomes.
Main Results:
- Congenital heart disease was present in 69% of patients, predominantly left-sided anomalies such as hypoplastic left heart syndrome and coarctation of the aorta.
- Diagnosis was often delayed, with a median age of 5.9 years. Genetic testing identified novel MLL2 mutations in most patients.
- Developmental delays were common, and hypoplastic left heart syndrome was the leading cause of mortality.
Conclusions:
- Pediatric cardiologists must be aware of Kabuki syndrome and its high association with left heart anomalies.
- Genetic testing is a valuable tool for early diagnosis, enabling timely intervention and genetic counseling for Kabuki syndrome.
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.
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