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Outcome of Down patients with repaired versus unrepaired atrioventricular septal defect
Mathies Daene1, Lore De Pauw1, Pieter De Meester1,2,3
1Faculty of Medicine, Catholic University of Leuven, Leuven, Belgium.
Insights
Surgical repair of atrioventricular septal defects (AVSD) in Down syndrome (DS) patients did not change mean survival time. However, surgical repair significantly improved long-term survival rates for DS patients with AVSD.
Area of Science:
- Cardiology
- Genetics
- Pediatric Surgery
Background:
- Down syndrome (DS) patients frequently present with atrioventricular septal defects (AVSD).
- Surgical repair of AVSD aims to reduce mortality and morbidity in DS patients.
- Limited outcome data exists for surgical versus non-surgical management of AVSD in DS.
Purpose of the Study:
- To compare the long-term outcomes of DS patients with and without surgical repair for AVSD.
- To analyze survival rates and mortality causes in DS patients with AVSD based on treatment approach.
Main Methods:
- Retrospective study of DS patients with AVSD from 1980-2020.
- Inclusion of 72 unrepaired and 134 surgically repaired AVSD patients.
- Data collection included patient characteristics, peri-operative details, and long-term follow-up.
Main Results:
- All-cause mortality was 45.8% for unrepaired vs. 17.1% for repaired AVSD.
- Long-term survival at 35 years post-birth was 62.1% for unrepaired vs. 81.7% for repaired.
- Highest mortality occurred within the first months following surgical repair.
Conclusions:
- Mean survival time did not significantly differ between repaired and unrepaired AVSD in DS patients.
- Surgical repair of AVSD in DS patients is associated with improved long-term survival rates.
- Early post-operative mortality is a critical consideration in surgical repair of AVSD in DS.
Background And Aims:
Patients with Down Syndrome (DS) are frequently born with an atrioventricular septal defect (AVSD). Surgical repair of the defect aims to minimize mortality and morbidity. However, a surgical intervention, specifically in DS patients, is not without risk and a subgroup of patients underwent only conservative non-surgical treatment. Outcome data of these different approaches are scarce. The aim of this retrospective study was to compare the long-term outcome of DS patients with and without surgery for AVSD.
Methods:
DS patients registered with AVSD in the hospital's database from January 1980 till December 2020 were selected. Patient characteristics, peri-operative if appropriate, and follow-up data were obtained from the medical files.
Results:
In total, 72 unrepaired (36 male, 50%) and 134 repaired patients (61 male, 46%) were included. After a maximum of 60 years of follow-up, the all-cause mortality was 45.8% and 17.1%, respectively. Thirty-six percent and 13%, respectively, were labeled as non-cardiovascular death. Mean survival time for unrepaired AVSD was 40.7 years (95% CI 36.1-45.2) and for repaired AVSD 38.5 years (95% CI 35.3-41.6) (Log rank p = 0.465). However, the survival rate 35 years after birth was 62.1% for unrepaired patients versus 81.7% for repaired patients. Mortality rates were the highest the first months after surgical repair.
Conclusions:
The mean survival rate of Down patients, born with an AVSD, did not differ between repair or not. However, long-term survival rate was higher in patients who underwent surgical repair. Mortality was highest the first months after surgery.
