Secundum Type Atrial Septal Defect in Patients with Trisomy 21—Therapeutic Strategies, Outcome, and Survival: A Nationwide Study of the German National Registry for Congenital Heart Defects

Abstract

(1) Secundum type atrial septal defect (ASD II) is usually considered a relatively benign cardiac lesion amenable to elective closure at preschool age. Patients with trisomy 21 (T21), however, are known to have a higher susceptibility for pulmonary vascular disease (PVD). Therefore, T21 children may present with clinical symptoms earlier than those without associated anomalies. In addition, early PVD may even preclude closure in selected T21 patients. (2) We performed a retrospective analysis of the German National Register for Congenital Heart Defects including T21 patients with associated isolated ASD II. We report incidence, demographics, therapeutic strategy, outcome, and survival of this cohort. (3) Of 46,628 patients included in the registry, 1549 (3.3%) had T21. Of these, 156 (49.4% female) had an isolated ASD II. Fifty-four patients (34.6%) underwent closure at 6.4 ± 9.9 years of age. Over a cumulative follow-up (FU) of 1148 patient-years, (median 7.4 years), only one patient developed Eisenmenger syndrome and five patients died. Survival of T21 patients without PVD was not statistically different to age- and gender-matched controls from the normal population (p = 0.62), whereas children with uncorrected T21/ASD II (including patients with severe PVD, in whom ASD-closure was considered contraindicated) showed a significantly higher mortality. (4) The outcome of T21-patients with ASD II and without PVD is excellent. However, PVD, either precluding ASD-closure or development of progressive PVD after ASD-closure, is associated with significant mortality in this cohort. Thus T21 patients with ASD II who fulfill general criteria for closure and without PVD should be offered defect closure analogous to patients without T21.

Long-Term Survival of Adult Patients With Atrial Septal Defect With Regards to Defect Closure and Pulmonary Hypertension

“…A study of ASD and trisomy 21 showed a significantly higher mortality in uncorrected ASD including those with severe pulmonary vascular disease (PVD) compared to those with ASD closure. However, this study comprised only children and the group with PH before ASD closure was not analyzed ( 15 ).…”

Atrial Septal Defect Device Closure in Patients with Metabolic or Genetic Diseases

“…Atrial septal defect is one of the cardiac diseases seen more frequently in patients with Down syndrome. The prognosis of ASD closure is excellent and comparable to genetically normal patients if pulmonary vascular disease is not present at the time of closure (25). Congenital cardiac malformations are identified in 94% of patients with Alagille syndrome (26).…”