HLHS with severe aortic insufficiency in a patient with 45,X/46,XY mosaicism.
Aortic insufficiency is not a part of the hypoplastic left heart syndrome. This report describes a rare case of congenital aortic insufficiency from a detached leaflet in a patient with hypoplastic left heart syndrome and 45,X/46XY mosaicism. The patient was subsequently treated with the modified Norwood procedure along with suture closure of aortic valve.
Department of Pediatric, The Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA. mumtazm@ccf.org
Muhammad A
MA
Mumtaz
Roger B B
RB
Mee
Athar
A
Qureshi
Chandrakant R
CR
Patel
Adel K
AK
Younoszai
D000328:Adult; D001022:Aortic Valve Insufficiency / Q000150:complications* / Q000151:congenital / Q000601:surgery; D006348:Cardiac Surgical Procedures / Q000379:methods*; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D018729:Fontan Procedure; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000150:complications* / Q000601:surgery; D007231:Infant, Newborn; D008297:Male; D008944:Mitral Valve Insufficiency / Q000151:congenital; D009006:Monosomy; D009030:Mosaicism; D011247:Pregnancy; D011248:Pregnancy Complications; D025064:Sex Chromosome Disorders / Q000150:complications*