左心低形成症候群

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.

IntroductionAortic arch repair following the Norwood operation remains challenging because of dense adhesions and the risk of phrenic or recurrent nerve injury. We present a novel approach employing descending aortic antegrade perfusion using a balloon catheter to minimize the extent of dissection.Case ReportA 2-year-old male with hypoplastic left heart syndrome and post-Norwood operation underwent aortic arch repair. A balloon catheter was inserted through the aortic arch for simultaneous descending aortic occlusion and distal antegrade perfusion. This eliminated the need for external clamping. The procedure was successful with no nerve paralysis.DiscussionThis technique reduces the dissection area, mitigating nerve injury risks. Furthermore, it ensures continuous lower body antegrade perfusion, protecting visceral organs independent of deep hypothermia.ConclusionSimultaneous descending aortic occlusion and antegrade perfusion using a balloon catheter represents a safe, feasible strategy for complex arch repair, potentially reducing morbidity in high-risk single-ventricle patients.

Background: The outcomes for infants with hypoplastic left heart syndrome (HLHS) have improved in recent years, partly due to advances in the Norwood procedure. An unobstructed aortic arch is important for maintaining right ventricular function. Previous studies have suggested that a highly tapered aortic arch may increase energy loss; however, the relationship between aortic arch geometry and right ventricular function remains unclear. Methods: This study was a retrospective single-center analysis. Results: During the study period, a total of 14 patients with HLHS who underwent the Norwood procedure and had contrast-enhanced computed tomography prior to the Glenn procedure were included. The median age at the Norwood procedure was 30 days (25-269), and the median weight was 3.0 kg (2.6-4.4). As an indicator of aortic arch tapering, we used the standard deviation of diameters measured at the ascending aorta, transverse arch, aortic isthmus, and descending aorta (Arch SD). There was a significant negative correlation between Arch SD and cardiac index. A significant negative correlation was also observed between Arch SD and right ventricular fractional area change. Conclusions: A more uniform and less tapered aortic arch geometry was associated with higher right ventricular function and cardiac index following the Norwood procedure for HLHS.