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Heart Development and Congenital Structural Heart Defects

Abstract : Congenital heart disease is the most frequent birth defect and the leading cause of death for the fetus and in the first year of life. The wide phenotypic diversity of congenital heart defects requires expert diagnosis and sophisticated repair surgery. Although these defects have been described since the seventeenth century, it was only in 2005 that a consensus international nomenclature was adopted, followed by an international classification in 2017 to help provide better management of patients. Advances in genetic engineering, imaging, and omics analyses have uncovered mechanisms of heart formation and malformation in animal models, but approximately 80% of congenital heart defects have an unknown genetic origin. Here, we summarize current knowledge of congenital structural heart defects, intertwining clinical and fundamental research perspectives, with the aim to foster interdisciplinary collaborations at the cutting edge of each field. We also discuss remaining challenges in better understanding congenital heart defects and providing benefits to patients.
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Contributor : Sigolène Meilhac Connect in order to contact the contributor
Submitted on : Monday, November 14, 2022 - 12:10:18 PM
Last modification on : Wednesday, November 23, 2022 - 2:51:30 PM


ARGHG Houyel and Meilhac 2021r...
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Distributed under a Creative Commons Attribution 4.0 International License




Lucile Houyel, Sigolène Meilhac. Heart Development and Congenital Structural Heart Defects. Annual Review of Genomics and Human Genetics, 2021, 22, pp.257-284. ⟨10.1146/annurev-genom-083118-015012⟩. ⟨pasteur-03851121⟩



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