Congenital Heart Defects in Kabuki Syndrome: Perioperative and Long-Term Outcomes from a 25-Year Single-Center...

PurposeTo characterize the clinical characteristics, surgical experience, and long-term outcomes of patients with Kabuki syndrome (KS) and congenital heart disease (CHD).MethodsWe performed a retrospective single-center review of 37 pediatric patients with KS evaluated between January 2000 and January 2025. Among these, 18 patients had CHD and were categorized according to whether cardiac surgery was required. Demographic characteristics, cardiac diagnosis, surgical procedures, perioperative risk factors and complications, survival, and follow-up data were analyzed.ResultsOf the 37 patients with KS, 18(49%) had CHD. The most frequent diagnoses were bicuspid aortic valve, hypoplastic left heart syndrome, and coarctation of the aorta. Eleven of 18 patients (61%) underwent cardiac surgery, whereas 7 of 18 (39%) did not require surgical intervention. Among 19 procedures performed, Hybrid Stage I palliation was the most common (n = 5), followed by atrial septectomy, Fontan procedure, and coarctectomy (n = 3 each). Perioperative morbidity was concentrated among patients with complex cardiac anatomy and significant KS-associated extracardiac comorbidities. Four of 11 surgical patients (36%) died during the index hospitalization, predominantly those with single-ventricle physiology. No deaths occurred among patients managed without surgical intervention, and no late mortality was observed during follow-up.ConclusionDurable long-term survival is achievable in patients with KS and CHD who survive the early postoperative period. Although perioperative morbidity and mortality were concentrated among patients with complex cardiac anatomy, outcomes also appeared to be influenced by KS-associated extracardiac comorbidities, supporting individualized surgical decision-making and multidisciplinary perioperative care.