Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome

Hasami, Nesar A.; Ko, Kinsing; Kempers, Marlies J.E.; van Kimmenade, Roland R.J.; Geuzebroek, Guillaume S.C.

doi:10.1016/j.jaccas.2023.102149

Cited by 1 publication

(1 citation statement)

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“…The high prevalence of left-sided obstructive lesions, particularly aortic coarctation associated with mitral abnormalities, emphasizes the need for comprehensive cardiac evaluations and long-term surveillance in this population. We recommend echocardiographic screening upon diagnosis to detect left-sided anomalies, and periodic follow-up to monitor for potential complications such as aortic dilatation [26,46].…”

Section: Discussionmentioning

confidence: 99%

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome

Lee,

Chuang,

Chen

et al. 2024

Diagnostics

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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.

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Section: Discussionmentioning

confidence: 99%