Screening Echocardiography in Adults with Down Syndrome

Abstract

Down syndrome is the most common chromosomal disorder in the United States, occurring in about 14.14/10,000 births. It is associated with multiple medical anomalies, including cardiac, gastrointestinal, musculoskeletal, and genitourinary abnormalities, which increases the burden of morbidity for this patient population. Management is typically directed toward optimizing health and function throughout childhood and into adulthood; however, consensus regarding their management in adulthood is controversial. The burden of congenital cardiac diseases in children with trisomy 21 is well established, seen in more than 40% of cases. Although screening echocardiography is performed routinely within 1 month of birth, current consensus advocates for diagnostic echocardiography only in symptomatic adults with Down syndrome. Here, we advocate that screening echocardiography should be performed routinely in this patient population at all ages, particularly in late adolescence and early adulthood, because of a high percentage of residual cardiac defects and an increased risk of developing valvular and structural cardiac disease.

Comprehensive Care for Adults with Down Syndrome in Primary Care Settings

“…Due to the high prevalence, the American Heart Association lists fetal echocardiogram between weeks 20 and 22 of gestation as a class I recommendation for all fetuses with trisomy 21 14 . This is typically followed by an additional screening echocardiogram within the first 30 days of life 15 . Echocardiography is limited only to symptomatic adults with DS, however 15 .…”

“…This is typically followed by an additional screening echocardiogram within the first 30 days of life 15 . Echocardiography is limited only to symptomatic adults with DS, however 15 . Because neonatal echocardiogram screening was only introduced in the mid-1980s, there are many adult DS patients who have undiagnosed CHD, and there is evidence to suggest that they may benefit from adulthood screening.…”

“…A 2010 retrospective cohort study from the Netherlands found that in a sample of 1158 adult DS patients, 17% had undiagnosed CHD 16 . Independent of CHD, adults with DS also have significantly higher rates of valvular regurgitation and left ventricular thickening and are more likely to develop heart failure at an earlier age 15 . Hence, primary care physicians are urged to screen all adults with DS who have a normal childhood echocardiogram with a thorough physical examination to assess for new murmurs.…”