Sex Differences and Cardiovascular Diseases in Down Syndrome

Laura D. Flores, Yana Pryakhina, Michael H. Tomasson, Melissa L. Bates, Lara R. DeRuisseau

Research output: Contribution to journalArticlepeer-review


Congenital heart disease and cardiovascular disease are the leading causes of death for individuals with Down Syndrome (Ds) (Zhu, J.L., et al, 2013). A systematic review was conducted in June 2021 to address the research question "Are there reported sex differences for cardiovascular disease and cardiovascular physiological function in Ds". Since there are significant sex differences in the risk of congenital heart and cerebrovascular disease in the general population, we hypothesized that these differences are present in the Ds population. Four domains were developed: congenital heart disease, baseline physiology and risk factors, heart disease and hypertension, and cerebrovascular disease. Exclusion criteria were applied to identify studies that addressed sex differences. The systematic review shows that women with Ds have a higher rate of congenital heart disease, coronary and cerebrovascular events and Moyamoya. Following the systematic review, a retrospective medical chart review of the University of Iowa Hospitals and Clinics was conducted using the platform TriNetX to identify the incidence of congenital and cardiovascular diseases in males and females. Relative risk was computed comparing Ds to general patient counts as well as men and women within each population. Ds patients did not share most of the sex differences in risk factors observed in the general population, however there are important sex differences in each domain that may contribute to earlier mortality in women with Ds. Several studies report women have an increased probability of developing risk factors for cardiovascular disease, such as obesity. Therefore, future research to understand the mechanism underlying these sex differences is necessary. REFERENCES: Zhu, J.L., et al., Survival among people with Down syndrome: a nationwide population-based study in Denmark. Genetics in Medicine, 2013. 15(1): p. 64-69.

Original languageEnglish (US)
JournalFASEB Journal
StatePublished - May 1 2022

ASJC Scopus subject areas

  • Biotechnology
  • Biochemistry
  • Molecular Biology
  • Genetics


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