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

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

doi:10.1016/j.jaccas.2023.102149

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

JACC Case Rep. 2023 Nov 30;29(1):102149. doi: 10.1016/j.jaccas.2023.102149. eCollection 2024 Jan 3.

Authors

Nesar A Hasami¹, Kinsing Ko¹, Marlies J E Kempers², Roland R J van Kimmenade³, Guillaume S C Geuzebroek¹

Affiliations

¹ Department of Cardiothoracic Surgery, Radboud University Medical Center, Nijmegen, the Netherlands.
² Human Genetics Department, Radboud University Medical Center, VASCERN HTAD European Reference Centre, Nijmegen, the Netherlands.
³ Department of Cardiology, Radboud University Medical Center, European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) The Heritable Thoracic Aortic Diseases Working Group (HTAD-WG) European Reference Centre, Nijmegen, the Netherlands.

Abstract

Our case report documents the first type A aortic dissection in a patient with Kabuki syndrome (KS) and emphasize the need for intensive cardiovascular risk monitoring in patients with KS. It stresses the importance of further research to establish a correlation and awareness for patients with KS.

Keywords: Kabuki syndrome; Turner syndrome; bicuspid aortic valve; cardiovascular abnormalities; coarctation of the aorta; type A aortic dissection.