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

Congenital Heart Disease 2021年第2期16卷 171-181页

作者： Reghan Conrey Sebastian Tume Carlos Bonilla-Ramirez Seema Lalani dean mckenzie Marc Anders Baylor College of Medicine HoustonUSA Section of Critical Care Medicine Department of PediatricsBaylor College of MedicineTexas Children’s HospitalHoustonUSA Division of Congenital Heart Surgery Texas Children’s HospitalDepartment of SurgeryBaylor College of MedicineHoustonUSA Department of Molecular and Human Genetics Baylor College of MedicineHoustonUSA

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.

关键词： Kabuki syndrome genetic disorder congenital heart disease survival outcome pediatric

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