Congenital Heart Disease (Overview)

In this video, we provide an overview of congenital heart disease (CHD), which affects about 1% of all newborns in the United States. We explore several environmental (e.g. pregestational diabetes) and genetic (e.g. DiGeorge syndrome) factors associated with CHD. We also discuss 2 frameworks for sub-classifying congenital heart disease (cyanotic vs acyanotic, and syndromic vs non-syndromic). Many cases of congenital heart disease are detected on prenatal ultrasound or on newborn screening, though some cases may go undiagnosed. Management is with medication, surgery, or observation, depending on the severity of the lesion.

While not discussed in this video, it is also important to note that congenital heart disease can present in adults. This often occurs with less severe cardiac defects that were not diagnosed in childhood.

More info about congenital heart disease can be found at the following websites:
https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074
https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/symptoms-causes/syc-20355456

Newsletter post with 2 board-style questions on this topic:
https://studyrare.substack.com/p/20240710-questions-82-83

Please consider supporting my rare disease education efforts by subscribing to the StudyRare newsletter, where I share board-style questions for ABMGG and ABGC exams each week: https://studyrare.substack.com/

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Thank you!

- Daniel

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