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Mitral valve prolapse in persons with Down syndrome
1Rhode Island Hospital.
Research in Developmental Disabilities
|March 1, 1994
Summary
This study found a high prevalence of heart valve issues, including mitral valve prolapse, in young adults with Down syndrome. Echocardiography revealed abnormalities in over half the participants, highlighting the need for cardiac monitoring.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Down syndrome is associated with an increased risk of congenital heart defects.
- Cardiac abnormalities can impact the quality of life and long-term health outcomes in individuals with Down syndrome.
Purpose of the Study:
- To determine the prevalence of mitral valve prolapse and aortic insufficiency in young, home-reared individuals with Down syndrome.
- To investigate the clinical presentation and potential complications of these valve disorders in this population.
Main Methods:
- Echocardiography was performed on 36 young adults (ages 20-32 years) with Down syndrome.
- Clinical examinations included auscultation for heart murmurs and clicks.
Main Results:
- Twenty out of 36 participants (55.6%) exhibited abnormal echocardiographic findings.
- Mitral valve prolapse was diagnosed in 13 individuals, with 3 also having aortic insufficiency.
- A midsystolic click, indicative of mitral valve prolapse, was heard in 14 of the 16 patients with this condition.
Conclusions:
- Young adults with Down syndrome have a significant prevalence of mitral valve prolapse and other mitral valve disorders.
- Regular cardiac screening, including echocardiography, is crucial for early detection and management of valvular heart disease in this population.
- Further research is warranted to explore the pathogenesis, complications, and impact on exercise capacity in individuals with Down syndrome and mitral valve prolapse.