Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

Abstract

Background: Atrioventricular septal defect (AVSD) is a cardiac malformation that accounts for up to 5% of total congenital heart disease, occurring with high frequency in people with Down Syndrome (DS). We aimed to establish the surgical challenges and outcome of medical care in different types of AVSD in children with DS compared to those without DS (WDS).Methods: The study included 62 children (31 with DS) with AVSD, evaluated over a 5 year period.Results: Complete AVSD was observed in 49 (79%) children (27 with DS). Six children had partial AVSD (all WDS) and seven had intermediate types of AVSD (4 with DS). Eight children had unbalanced complete AVSD (1 DS). Median age at diagnosis and age at surgical intervention in complete AVSD was not significantly different in children with DS compared to those WDS (7.5 months vs. 8.6). Median age at surgical intervention for partial and transitional AVSDs was 10.5 months for DS and 17.8 months in those without DS. A large number of patients were not operated: 13/31 with DS and 8/31 WDS.Conclusion: The complete form of AVSD was more frequent in DS group, having worse prognosis, while unbalanced AVSD was observed predominantly in the group without DS. Children with DS required special attention due to increased risk of pulmonary hypertension. Late diagnosis was an important risk factor for poor prognosis, in the setting of suboptimal access to cardiac surgery for patients in Romania. Although post-surgery mortality was low, infant mortality before surgery remains high. Increased awareness is needed in order to provide early diagnosis of AVSD and enable optimal surgical treatment.

Preoperative Hemoglobin Level, Oxygen Saturation and Postoperative Outcomes in Children With Cyanotic Congenital Heart Disease: A Propensity-Score Matching Analysis

“…Moreover, an association, rather than causation, was identified between preoperative Hb × SpO 2 < aaHb and postoperative outcomes. We could not eliminate the influence of other confounding factors such as socioeconomic status (33,34) and chromosome abnormality (35), which were reported as prognostic factors for children with CHD but were not recorded for all children in our study.…”

Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus

“… 104 Late diagnosis, lack of neonatal intensive care services, and poor access to cardiac surgery play a role in the guarded prognosis of infants with DS and CHD in these settings. 105 , 106 …”

“…104 Late diagnosis, lack of neonatal intensive care services, and poor access to cardiac surgery play a role in the guarded prognosis of infants with DS and CHD in these settings. 105,106 The diagnosis of DS in LMICs is mainly on the basis of clinical and phenotypic appearance because prenatal diagnosis and neonatal screening are often limited or unavailable. 107,108 In 1 African study, only 15% of children with DS who required surgery received appropriate intervention, with delays mainly attributable to low birthweight and late presentation, 109 as families in LMICs may be unable to identify concerning signs and seek help.…”

Cardiopatia congênita na Síndrome de Down com enfoque no defeito do septo atrioventricular: revisão de literatura

“…Segundo Olariu et al (2021), quando o defeito do septo atrioventricular é completo, recomenda-se realizar a cirurgia entre o terceiro e sexto mês de vida, tempo ideal para que uma importante complicação do shunt sistêmico-pulmonar, a hipertensão pulmonar, não se estabeleça. Já as crianças com DSAV parcial e transitório podem esperar até a fase pré-escolar ou mais para a realização da cirurgia, tendo em vista que nesse caso a maioria é assintomática (Olariu et al, 2021). Por outro lado, alguns pacientes que possuem defeitos mais graves, podem necessitar de transplante cardíaco (Neves, 2020).…”