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Connections: CHD and Down syndrome

The most common birth defect and the most common genetic syndrome have a strong connection.

In the United States, Down syndrome affects 1 in 800 infants born, making it the most common genetic condition. Congenital heart disease affects 1 in 100, and we know it is the most common birth defect. But did you know that a large number of those with Down syndrome also have CHD?

Scientists that specialize in genetics at Massachusetts General Hospital and Aarhus University Denmark have studied available records to determine prevalence, type of CHD, severity, and screening methods.

There may be trends in specific types of CHD…however not all studies support this. Future studies would ideally be international, population-based, longitudinal, use consistent nomenclature, and account for factors which impact prevalence and severity of CHD.

– Journal of Congenital Cardiology, January 6, 2021

To learn more, read the study here.


Meet Super Noah and his super Mom, Yami. Together they are using their #CHDVoice to #ConqueringCHD!

Despite two open-heart surgeries, countless therapies, a diagnosis of Pulmonary Hypertension, and an upcoming ENT surgery, Noah is doing well. He just celebrated his third birthday – with hundreds of friends and family virtually cheering for him.

Yami has created a loving and welcoming space for families of special needs children, especially Black families. You can connect with her on Instagram at @_supernoah.


Share your story

Do you or someone you love have DS and CHD? Share your story with us for the chance to be featured in our #CHDVoice campaign!


Resources for individuals with Down syndrome and their families

The Brett Boyer Foundation
National Association for Down Syndrome
National Down Syndrome Association
National Down Syndrome Congress

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