Study of Down Syndrome and Congenital Heart Defects

The most common form of congenital heart defect (CHD) in Down Syndrome is an atrioventricular septal defect (or AVSD). One in five children with Down syndrome has an AVSD. Children with Down syndrome are 2000 times more likely to have a complete AVSD than children without Down syndrome. The goal of this study is to identify genetic and environmental factors that influence the susceptibility for congenital heart defects in people with Down syndrome. This is a nationwide study with sites at Kennedy Krieger Institute and Johns Hopkins University in Baltimore, Oregon Health Sciences in Portland, Children's National Medical Center in Washington, DC, and Emory University and The Sibley Heart Center at Children's Healthcare of Atlanta here in Georgia.

What will I be asked to do if I participate?

Families of children with Down syndrome who were born with a complete atrioventricular septal defect (or AV Canal) with or without another major heart or birth defect are eligible to participate. Participation of mothers is required and participation of fathers is encouraged. Children must be under the age of 18.

Participation involves three steps:

  1. We ask parents for permission to obtain their child's medical records to check for any of the medical problems often seen in individuals with Down syndrome.
  2. We interview the mother and father by telephone. The interview takes about 45 minutes. Questions cover a broad range of topics, including health and reproductive history, family health history, and environmental exposures.
  3. Parents are asked to donate a saliva sample and a small blood sample is collected from the child with Down syndrome.

What will you do with the DNA samples?

We use DNA samples to identify genetic changes that may influence heart development. In the future, if we want to use your DNA to study something other than Down syndrome, we will ask your permission first.

How will you protect my family's privacy?

Information you give us during the interview, as well as lab results from the samples you provide, are kept confidential. This means:

  • Numbers instead of names are used to identify participants' samples and interviews.
  • Personal information about you will not be available to anyone outside this study.
  • We will never use your name or your family's name in any report or publication.
  • No information from this study will be entered into your child's medical record.

I would like to participate. How do I to that?

If you would like to participate in the DS-CHD study, please email Tracie Rosser at trosser@genetics.emory.edu or call 404-778-8474