TY - CHAP M1 - Book, Section TI - Genetics of Congenital Heart Disease A1 - Lalani, Seema R. A1 - Ware, Stephanie A2 - Kline, Mark W. Y1 - 2018 N1 - T2 - Rudolph's Pediatrics, 23e AB - Congenital heart disease (CHD) is one of the most prevalent causes of mortality among US born infants and a significant source of global economic burden, affecting almost 1% of all live-born infants. The estimate of CHD in aborted fetuses is even higher, reaching up to 10%. The underlying causes of CHD are varied and can include cytogenetic abnormalities, single-gene disorders, epigenetic alterations, environmental etiologies, or most commonly, multifactorial etiologies. Large-scale epidemiologic studies suggest that a genetic or environmental cause for CHD is identifiable in approximately 20% to 30% of cases. Infants with CHD are considered to have syndromic conditions based on the findings of multiple congenital anomalies or neurodevelopmental delays. The distinction between syndromic and nonsyndromic, or isolated, CHD can be subtle, leading to lack of recognition of syndromic cases. In addition, as genetic diagnostic modalities have become more sophisticated, the spectrum of genetic syndromic conditions has expanded, and therefore, previous assessments of syndromic cases may represent an underestimate. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182931465 ER -