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.
Subject(s)
Cardiovascular Diseases , Cardiovascular System , Down Syndrome , Heart Defects, Congenital , Pregnancy , Female , Humans , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/etiology , Down Syndrome/complications , Down Syndrome/epidemiology , Down Syndrome/therapy , Consensus , Heart Defects, Congenital/complications , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/epidemiologyABSTRACT
OBJECTIVE: To describe the cardiac lesions seen in children with trisomy 21, the outcome of these children and rates of access to corrective surgery at the Bustamante Hospital for Children. METHODS: A 10-year retrospective review of the records of trisomy 21 patients with cardiac lesions referred to the Bustamante Hospital for Children was conducted. RESULTS: A total of 76 patients were enrolled in the study, 30 (40%) males and 46 (60%) females; among these 110 cardiac lesions were detected. A total of 20 (26%) patients died, 48 (63%) survived, and for 8 (11%) the status was unknown. The most common lesion was the atrioventricular septal defect, which accounted for 41 (37%) of all the lesions and occurred as a single defect in 24 (53%) patients. At presentation, 33 (46%) patients had one or more medical complication; 30 (91%) had cardiac failure, 10 (30%) had pneumonia and 5 (15%) had evidence of systemic pulmonary arterial pressures. Cardiac catheterisation was recommended for 43 (56%) patients but only 10 (23%) had the procedure done. Surgery was recommended for 60 (79%) patients; of these 6 (10%) patients had the procedure done. The median time of survival was 88 months (7.3 years). The age of presentation was not found to significantly affect outcome. CONCLUSION: Trisomy 21 patients with cardiac lesions have high morbidity and mortality. This morbidity and mortality could be reduced if surgical intervention was offered routinely.