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- Title
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
- Authors
Lee, Chung-Lin; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Ju-Li; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
- Abstract
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype–phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the KMT2D gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic KMT2D variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype–phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with KMT2D mutations are left-sided obstructive lesions and septal defects.
- Subjects
CONGENITAL heart disease; CARDIAC patients; ATRIAL septal defects; PATENT ductus arteriosus; VENA cava superior; MITRAL valve prolapse; VENTRICULAR septal defects
- Publication
Diagnostics (2075-4418), 2024, Vol 14, Issue 8, p846
- ISSN
2075-4418
- Publication type
Article
- DOI
10.3390/diagnostics14080846