Kennedy Krieger Institute Down Syndrome Clinic


Research Announcement ! !

Go To Home Page Update, 2004

WHO: We are recruiting children with Down syndrome to participate in a NIH funded study to help further understand the relationship between DS and congenital heart disease (CHDs). We are particularly interested in children who were born with AV canal defects. We are also seeking children with DS who WERE NOT born with any structural heart defect to serve as controls.
  WHY: Congenital heart defects are not specific to Down syndrome, but their causes are poorly understood. Researchers hypothesize that, since an estimated 40-60% of children born with Down syndrome are also born with a heart defect (especially AV canal defects), many important genes responsible for determining heart structure may lie on chromosome 21. The study will examine the presence or absence of genetic markers in several candidate genes on chromosome 21 in order to identify genetic and environmental factors related to congenital heart disease.

WHEN: We anticipate running this study until we have recruited 400 children with Down syndrome with AV canal defects and 400 children with Down syndrome without any structural heart defects.

WHAT: At their convenience, parents will need to complete a telephone questionnaire with the genetic counselor regarding possible exposures during pregnancy, familial risk factors and reproductive history. Additionally, parents and children will need to provide a small blood sample (2-4 teaspoons) for DNA analysis. Younger children will only need to give 1/4 tsp of blood. This can be completed during a visit to the KKI or Johns Hopkins, or through the mail by arrangement with a primary care physician.

HOW: If you are interested in participating, please contact us! We look forward to working with you to help find some of the genetic and environmental factors related to congenital heart disease in Down syndrome.

George T. Capone, MD
Director, Down Syndrome Clinic

Charnan Koller, R.N.
Research Coordinator

Call 443-923-9131 or 800-873-3377, ext. 9131
Or e-mail

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