Kabuki-Syndrome and Congenital Heart Disease-A Twenty-Year Institutional Experience

作     者：Reghan Conrey Sebastian Tume Carlos Bonilla-Ramirez Seema Lalani Dean McKenzie Marc Anders 

作者机构：Baylor College of MedicineHoustonUSA Section of Critical Care MedicineDepartment of PediatricsBaylor College of MedicineTexas Children’s HospitalHoustonUSA Division of Congenital Heart SurgeryTexas Children’s HospitalDepartment of SurgeryBaylor College of MedicineHoustonUSA Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA 

出 版 物：《Congenital Heart Disease》 (先天性心脏病（英文）)

年 卷 期：2021年第16卷第2期

页      面：171-181页

核心收录：

学科分类：1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1002[医学-临床医学] 1010[医学-医学技术（可授医学、理学学位）] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 0703[理学-化学] 0702[理学-物理学] 1009[医学-特种医学] 10[医学] 

主　　题：Kabuki syndrome genetic disorder congenital heart disease survival outcome pediatric 

摘      要：Background:Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or *** outcomes and postoperative courses following congenital heart surgery in patients with Kabuki-Syndrome(KS)have not been well ***:The purpose of this study was to describe the postoperative courses and associated outcomes in the largest set of KS patients undergoing congenital heart surgery to ***:Patients with a confirmed molecular diagnosis of KS and a diagnosis of a CHD admitted to Texas Children’s Hospital between January 1,2000 and January 1,2020 were included(n=20).Demographics and medical histories were collected from the hospitals’electronic health ***:Of 20 patients identified with KS and a CHD,15 required surgical correction of their congenital cardiac *** age and weight at the time of surgery was 2 months and 4.1 kg,*** duration of hospital stay was 49 days for all surgeries and 151 days for the Norwood *** infections and pleural effusions were detected and treated in 45.8%and 50%of patients,*** was no in-hospital mortality for any *** follow up time was 5.6 years;survival at 6 years was 94%.Conclusions:Although KS patients seem to be at increased risk for a more complicated,prolonged postoperative course than that of patients without a genetic syndrome,patients with a diagnosis of a CHD and KS do not appear to be at increased risk of mortality following congenital heart surgery.