From the Guidelines
Down syndrome is strongly associated with an increased risk of cardiomyopathy, particularly due to the high prevalence of congenital heart defects. The association between cardiomyopathy and Down syndrome is multifaceted, involving both genetic and environmental factors that contribute to cardiac development and function abnormalities 1. Key points to consider in this association include:
- The genetic abnormality of trisomy 21 affects cardiac development, leading to a higher prevalence of congenital heart defects such as atrioventricular septal defects, ventricular septal defects, and atrial septal defects, which can contribute to the development of cardiomyopathy over time.
- Approximately 40% of individuals with Down syndrome have congenital heart defects, with 81% of chromosomal abnormalities in infants with cardiovascular defects being Down syndrome 1.
- Regular screening for cardiomyopathy and other cardiac issues is crucial in individuals with Down syndrome, given the potential for delayed diagnosis due to attribution of symptoms to other aspects of the syndrome.
- Treatment approaches for cardiomyopathy in individuals with Down syndrome are similar to those for the general population, including the use of ACE inhibitors, beta-blockers, and diuretics, but may require adjustment based on individual factors such as body size and metabolism. Given the complexity of managing cardiomyopathy in the context of Down syndrome, a multidisciplinary approach to care, including regular cardiac screening and collaboration between cardiologists and other healthcare providers, is essential 1.
From the Research
Association Between Cardiomyopathy and Down Syndrome
The association between cardiomyopathy and Down syndrome is a significant concern, as individuals with Down syndrome are at a higher risk of developing cardiovascular complications.
- Cardiomyopathy, including hypertrophic cardiomyopathy, can occur in individuals with Down syndrome, although it is rare 2.
- Congenital heart disease is the most common cardiovascular condition in individuals with Down syndrome, present in up to 50% of people with Down syndrome, and contributing to poor outcomes 3.
- The prevalence of cardiovascular anomalies in Down's syndrome is well described, with the commonest anomaly being complete atrioventricular septal defect 4.
- Even adults with Down's syndrome who are apparently free of cardiac symptoms may be at risk for valvular disease, with a significant incidence of mitral valve prolapse and regurgitation 5.
- The surface 12-lead ECG can be used to suspect most of the cardiac abnormalities in patients with Down syndrome, including cardiac rhythm and conduction abnormalities 6.
Cardiovascular Complications in Down Syndrome
Individuals with Down syndrome are at a higher risk of developing various cardiovascular complications, including:
- Congenital heart disease
- Pulmonary hypertension
- Coexistent pulmonary, endocrine, and metabolic diseases
- Risk factors for atherosclerotic disease
- Disparities in cardiovascular care compared to the general population 3.
- Cardiomyopathy, including hypertrophic cardiomyopathy, can occur in individuals with Down syndrome, and may require surgical treatment or cardiac transplantation 2, 4.