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Published on: May 19, 2020
Aortic regurgitation and mitral valve prolapse with Down's syndrome: a case-control study
S Z Goldhaber1, W D Brown, N Robertson
1Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115.
Journal of Mental Deficiency Research
|August 1, 1988
Summary
Adults with Down's syndrome have a higher risk of aortic regurgitation (AR) and mitral valve prolapse (MVP). This study confirms these heart conditions are specifically linked to Down's syndrome.
Area of Science:
- Cardiology
- Genetics
- Clinical Medicine
Background:
- Down's syndrome is associated with various health complications.
- Valvular heart disease prevalence in Down's syndrome requires further investigation.
- Distinguishing specific associations from general intellectual disability is crucial.
Purpose of the Study:
- To investigate the specific association between Down's syndrome and aortic regurgitation (AR).
- To determine the specific association between Down's syndrome and mitral valve prolapse (MVP).
- To compare the prevalence of AR and MVP in individuals with Down's syndrome versus those with intellectual disability from other causes.
Main Methods:
- Case-control study design.
- Inclusion of 131 adult cases with Down's syndrome and 92 control subjects with intellectual disability from other etiologies.
- Statistical analysis to calculate relative risk for AR and MVP.
Main Results:
- The relative risk of AR in adults with Down's syndrome was 2.9 (P=0.16).
- The relative risk of MVP in adults with Down's syndrome was 3.5 (P=0.02).
- MVP showed a statistically significant association with Down's syndrome.
Conclusions:
- Mitral valve prolapse is specifically associated with Down's syndrome in adults.
- Aortic regurgitation may also be associated, though not statistically significant in this cohort.
- These findings highlight the importance of cardiac screening in individuals with Down's syndrome.
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