Cardiovascular problems in people with Down syndrome

Congenital cardiovascular abnormalities are common in people with Down syndrome. Half of all children with Down syndrome have endocardial cushion defect, and many require cardiac surgery in childhood. Echocardiography should be performed within 1 month of birth, with cardiology review.

Pulmonary artery hypertension can occur with or without congenital heart disease. Assess children and adults with pulmonary artery hypertension for symptoms annually, and refer if indicated.

Mitral valve dysfunction can develop in people with Down syndrome at any age, and affects 50% of adults. Annual cardiac examination is recommended in adults, with echocardiography to confirm or clarify any abnormal findings.

An echocardiogram is recommended at around 18 years to assess cardiac function and establish baseline anatomy, if not previously done.

If a person with Down syndrome has a cardiac condition listed here, antibiotic prophylaxis against infective endocarditis is recommended if the person is undergoing one of the specific procedures listed here. General measures to prevent infective endocarditis are also important for people with a cardiac condition listed in Cardiac conditions for which endocarditis prophylaxis is recommended for patients undergoing a procedure listed in the figure below or any form of native valve disease.

People with Down syndrome tend to have lower blood pressure and lower rates of atherosclerosis than the general population, but they are more likely to be overweight and to have cardiac conduction defects that may cause arrhythmia. If antipsychotics or other drugs associated with QT prolongation are indicated, perform an electrocardiogram (ECG) first; see Drugs highly associated with QT-interval prolongation and torsades de pointes for drugs that are highly associated with QT prolongation and torsades de pointes.

People with Down syndrome are at increased risk of both ischaemic and haemorrhagic stroke. Stroke has been associated both with congenital heart disease and, occasionally with Moyamoya disease. Management is as for the general population, see the Neurology guidelines.

Cardiovascular risk factors should be reviewed as for the general population. Usual management of cardiovascular risk factors is appropriate, with consideration of reasonable adjustments to care (eg accessible information) for people with developmental disability. Preventive health care is an essential component of cardiovascular risk reduction; see also Cardiovascular disease risk modification.