Outcome of Down patients with repaired versus unrepaired atrioventricular septal defect

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.