Cardiologist Care in Adults with Down Syndrome

Initial Cardiac Assessment

Adults with Down syndrome should undergo comprehensive cardiac evaluation, including echocardiography to assess for congenital heart defects, which are present in up to 50% of cases, particularly atrioventricular septal defects (AVSD), patent ductus arteriosus, and atrial septal defects, as recommended by the American Heart Association 1
Screening for cardiac arrhythmias is necessary, as atrial arrhythmias may indicate underlying hemodynamic abnormalities, according to the American College of Cardiology 2

The American College of Cardiology recommends that all adults with Down syndrome and congenital heart disease be evaluated by and have periodic follow-up with a cardiologist who has expertise in ACHD, with the frequency depending on the complexity of cardiac disease 2
The frequency of follow-up care should be annual for repaired AVSD with minimal residua, every 6-24 months for moderate complexity lesions, and every 3-12 months for complex lesions or significant residua, as suggested by the American Heart Association 2, 3

Cardiologists caring for adults with Down syndrome must have specific training and expertise in ACHD, as these patients represent a growing population in tertiary ACHD clinics, according to the American College of Cardiology 1, 4
Surgeons with training and expertise in congenital heart disease should perform any cardiac operations, and cardiac catheterization and interventional procedures should be performed by ACHD specialists, as recommended by the American Heart Association 2, 5, 6

The American College of Cardiology recommends that cardiologists screen for coexisting conditions, including hypothyroidism, sleep apnea, obesity and metabolic disorders, atlantoaxial instability, depression, and Alzheimer's disease, in adults with Down syndrome 1

Women with Down syndrome and congenital heart disease should be evaluated before conception to ensure no significant residual hemodynamic lesions that might complicate pregnancy, and the issue of pregnancy risk and preventive measures should be discussed with women and their caregivers, as recommended by the American College of Cardiology 2, 5

Sedation or general anesthesia is often necessary for routine procedures in adults with Down syndrome, and the risks must be carefully reviewed by CHD specialists, according to the American Heart Association 1
Mandatory cervical spine imaging before any anesthesia is necessary due to atlantoaxial instability risk, as recommended by the American College of Cardiology 1

Clarity about which healthcare provider serves as the medical "home" is essential, and the ACHD specialist should work closely with a primary physician who accepts this responsibility, ensuring current clinical records are on file and patients have copies of relevant records, as suggested by the American College of Cardiology 4, 6