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<< Congenital Heart Disease In Pediatric Patients: Recognizing The Undiagnosed And Managing Complications In The Emergency Department

Etiology And Pathophysiology

The cause of CHD is often undetermined and is believed to be a multifactorial process with contributions from both genetic and environmental factors. Only approximately 15% of CHD has an identifiable etiology.Genetics clearly play a role in some CHD, which is reflected in an increased risk of CHD in newborns with an affected sibling (2%-6%); the relative risk varies by the particular lesion of the first child, and can be as high as 20% to 30%. Specific chromosomal aneuploidies such as Down syndrome, Turner syndrome, trisomy 13, and trisomy 18 account for 8% to 10% of CHD.Single-gene mutations are often associated with syndromes that include CHD such as DiGeorge syndrome (cardiac defects, abnormal facies, thymus aplasia, cleft palate, and hypocalcemia caused by deletion of the 22q11.2 region), Holt-Oram syndrome (CHD and upper limb malformations caused by mutations in the TBX5 and SALL4 genes), and Alagille syndrome (CHD and liver disease from JAG1 or NOTCH2 defects).3,4 Table 3, summarizes some of the more common congenital syndromes and their associated CHD. 

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Last Modified: 09/22/2017
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