Evaluation of congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome

Abstract

To describe congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome (DS), which could inform potential health recommendations for this population. Cross-sectional, observational study of adults with DS evaluated consecutively at a tertiary care, outpatient center between January 1 and December 31, 2019. The study population comprised 937 patients (51.8% men; median [IQR] age, 42 [18] years). An echocardiogram was available in the clinical chart of 420 patients (44.8%). The diagnosis of any form of heart disease was confirmed in 211 patients (22.5%): 101 (10.8%) had congenital heart defects, 80 (8.5%) simultaneous congenital and valvular heart diseases, and 30 (3.2%) isolated valvular heart disease. 111 patients (52.6% of those with congenital or valvular heart disease) had received corrective cardiac surgery. A total of 65 individuals were receiving medical management alone (30.8%), while 35 did not require any treatment because their cardiac disease was mild (16.6%). We found a high overall prevalence of heart disease in patients with DS, higher than previously reported for the pediatric population. Management of cardiovascular disease in adults with DS differs from that of the general population and should include universal echocardiography-based screening.

Comparison of non-invasive ventilation use and outcomes in children with Down syndrome and other children using this technology

“…In the present study, children with DS had a higher rate of starting LT-NIV use for cardiac indications than other children. Given that approximately half of live born children with DS will have congenital heart disease (CHD) (Dimopoulos et al, 2023), 28% will have pulmonary hypertension (Bush et al, 2018), and 17% to 56% will have OSA and pulmonary hypertension (Rabes et al, 2022), cardiac indications for LT-NIV are uncommon though important. There is, however, little information on the effects of LT-NIV on cardiac pathophysiology in the context of CHD or pulmonary hypertension including in children with DS.…”