Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement.
We report the aneurysmal dilation of the ascending aorta and the main pulmonary artery in 2 children with Kabuki syndrome. In 1 patient, there was progressive aneurysmal dilation of the ascending aorta necessitating aortoplasty. Histologic examination of the resected aorta revealed disrupted and fragmented elastic fibers in the medial layer, along with mucinous degeneration of the aortic wall. This is the first recognition and report of these findings as part of the Kabuki syndrome.
Dyamenahalli
Umesh
U
Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA. dyamenahalliUmesh@uams.edu
Abraham
Boban
B
Fontenot
Eudice
E
Prasad
Vinay
V
Imamura
Michiaki
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery; D000293:Adolescent; D000783:Aneurysm / Q000175:diagnosis / Q000601:surgery*; D001011:Aorta / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery*; D002658:Developmental Disabilities; D004108:Dilatation, Pathologic / Q000175:diagnosis / Q000601:surgery; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009131:Muscle, Smooth, Vascular / Q000002:abnormalities / Q000473:pathology; D009139:Musculoskeletal Abnormalities; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery*; D013577:Syndrome