Cardiovascular Complications of Down Syndrome: Key Points

Dimopoulos K, Constantine A, Clift P, et al., on behalf of the Down Syndrome International (DSi).
Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus. Circulation 2023;147:425-441.

The following are key points to remember from a review and expert consensus on cardiovascular complications of Down syndrome (DS):

  1. Congenital heart defects occur in approximately 50% of live-born infants with Down syndrome (DS). In a majority of studies, atrioventricular septal defect (AVSD) was the most common congenital heart disease (CHD), followed by isolated tetralogy of Fallot (TOF), AVSD with TOF, and isolated ventricular septal defect.
  2. All infants with a diagnosis or suspicion of DS should be screened for CHD with physical examination, electrocardiography, and echocardiography where available.
  3. All infants with DS and CHD should be referred to an expert center for management, with the timing and type of repair based on the form of CHD, clinical presentation, and the individual risk of developing pulmonary hypertension (PH).
  4. Early CHD repair is recommended for the infants amenable to biventricular repair, regardless of the presence of DS. DS is not associated with higher perioperative risk for most types of CHD.
  5. Infants with DS and CHD should be assessed for the presence of PH, both before CHD repair and periodically thereafter.
  6. Thorough preoperative multidisciplinary evaluation for perioperative risk factors including upper airway obstruction, lymph node to axial instability, and endocrine or hematologic complications is important for all patients with drug-eluting stents (DES) undergoing surgical or percutaneous interventions for CHD. Anesthetic care should be provided by cardiac anesthesiologists with expertise in DS.
  7. All individuals with DES and CHD should receive lifelong expert CHD care, including regular surveillance to ensure early diagnosis and management of long-term complications. A structured transition and transfer from pediatric to adult CHD services should be offered to all individuals with CHD.
  8. Individuals with DS and PH related to CHD may benefit from PH-specific therapies and should be followed in specialist PH and CHD centers.
  9. Ambulatory and in-hospital care for individuals with DS should be patient centered with adequate planning and support for the individual and family to minimize stress and maximize their involvement in decision making.
  10. Obstructive sleep apnea is highly prevalent in adults with DS. It likely contributes to pulmonary hypertension as well as left ventricular diastolic dysfunction.
  11. Those with DS and CHD should be considered for advanced heart failure therapies. The presence of DS alone should not serve as an absolute contraindication to transplantation.

Clinical Topics: Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Diabetes and Cardiometabolic Disease, Heart Failure and Cardiomyopathies, Invasive Cardiovascular Angiography and Intervention, Noninvasive Imaging, Prevention, Pulmonary Hypertension and Venous Thromboembolism, Vascular Medicine, Cardiac Surgery and CHD and Pediatrics, Cardiac Surgery and Heart Failure, Congenital Heart Disease, CHD and Pediatrics and Imaging, CHD and Pediatrics and Interventions, CHD and Pediatrics and Prevention, Acute Heart Failure, Pulmonary Hypertension, Interventions and Imaging, Interventions and Structural Heart Disease, Interventions and Vascular Medicine, Echocardiography/Ultrasound, Hypertension, Sleep Apnea

Keywords: Diagnostic Tests, Routine, Down Syndrome, Drug-Eluting Stents, Echocardiography, Electrocardiography, Heart Defects, Congenital, Heart Failure, Heart Septal Defects, Ventricular, Hypertension, Pulmonary, Infant, Pediatrics, Sleep Apnea, Obstructive, Tetralogy of Fallot

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