Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus

Abstract

Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, present in up to 50% of people with Down syndrome and contributing to poor outcomes. Additional factors contributing to cardiovascular outcomes include pulmonary hypertension; coexistent pulmonary, endocrine, and metabolic diseases; and risk factors for atherosclerotic disease. Moreover, disparities in the cardiovascular care of people with Down syndrome compared with the general population, which vary across different geographies and health care systems, further contribute to cardiovascular mortality; this issue is often overlooked by the wider medical community. This review focuses on the diagnosis, prevalence, and management of cardiovascular disease encountered in people with Down syndrome and summarizes available evidence in 10 key areas relating to Down syndrome and cardiac disease, from prenatal diagnosis to disparities in care in areas of differing resource availability. All specialists and nonspecialist clinicians providing care for people with Down syndrome should be aware of best clinical practice in all aspects of care of this distinct population.

Keywords: Down syndrome; cardiovascular diseases; heart defects, congenital; hypertension, pulmonary.

Figure 1.

Cardiac and extracardiac disease in Down syndrome contributing to cardiovascular morbidity and mortality. CV indicates cardiovascular; and ENT, ear, nose, and throat.

Figure 2.

Manifestations of congenital heart disease in Down syndrome. A, ECG of an individual with Down syndrome, atrioventricular septal defect (AVSD), and Eisenmenger syndrome. There is right bundle branch block, peaked P waves (P pulmonale), and extreme QRS axis. B, A complete AVSD is shown with low velocity bidirectional shunting at atrial and ventricular levels. C, Computed tomography scan of the thorax (coronal section) in a person with Eisenmenger ventricular septal defect, displaying gross cardiomegaly along with severe bronchopulmonary dysplasia. D, Axial computed tomography image from an individual with Down syndrome, obesity, and Eisenmenger syndrome with complete AVSD and a permanent pacemaker. E, Parasternal short-axis view of a trileaflet left atrioventricular valve after AVSD repair. The arrow shows the gap between the 2 bridging leaflets, which is commonly the site of regurgitation. F, Chest radiography shows a dual chamber permanent pacemaker in an individual with Down syndrome and Eisenmenger AVSD. There is severe dilation of the pulmonary vasculature, most visible on the right (arrow), and severe cardiomegaly. LA indicates left atrium; LV, left ventricle; RA, right atrium; and RV, right ventricle.