Clues to Genetics of Congenital Heart Defects Emerge From Down Syndrome Study

Drs. Michael E. Zwick and Stephanie L. Sherman, faculty members in GMB and PBEE, discussed their results from the largest genetic study of congenital heart defects in individuals with Down syndrome that was published in the journal Genetics in Medicine.

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital heart defects. However, not all people with Down syndrome have them – about half have structurally normal hearts.

“In Down syndrome, there’s a 50-fold increase in risk for heart defects, which is enormous,” says Zwick. “Studying congenital heart defects in the ‘at risk’ Down syndrome population can make it possible to reveal genes that impact the risk of heart defects in all children, including those with typical number of chromosomes.”

Sherman also added, “Our partnership with families who have a child with Down syndrome and our investment in a comprehensive clinical data and biorepository will continue to provide resources to study not only heart defects, but also other Down-syndrome associated medical conditions such as cognitive function, leukemia,  and dementia." 

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