Christopher M Stark, Brian N Hughes, John Paul Schacht, Theresa M Urbina
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引用次数: 0
Abstract
Structural congenital heart disease (CHD) represents a heterogeneous group of cardiac anomalies of variable embryologic and molecular origins. A basic understanding of the genetics implicated in nonsyndromic (isolated) and syndromic structural CHD can better inform management decisions and family counseling. When a fetus or neonate develops CHD as a result of a genetic cause, it can be due to a mutation or a monogenic, oligogenic, or polygenic pathogenic variant. In this review, we summarize basic cardiac embryology in the context of genetic signaling pathways and proteins that are commonly implicated in syndromic and nonsyndromic structural CHD. We also provide an overview of the basic genetic evaluation in infants with common syndromic structural CHD.
NeoReviewsMedicine-Pediatrics, Perinatology and Child Health
CiteScore
2.20
自引率
0.00%
发文量
110
期刊介绍：
Co-edited by Alistair G.S. Philip, MD, FAAP, and William W. Hay Jr., MD, FAAP, NeoReviews each month delivers 3 to 4 clinical reviews, case discussions, basic science insights and "on the horizon" pieces. Written and edited by experts, these concise reviews are available to NeoReviews subscribers at http://neoreviews.aappublications.org. Since January 2009, all clinical articles have been mapped to the American Board of Pediatrics (ABP) content specifications in neonatology.
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