Heart Development and Congenital Structural Heart Defects
| Autor: | Lucile Houyel, Sigolène M. Meilhac |
|---|---|
| Přispěvatelé: | Centre de Référence des cardiopathies congénitales (M3C), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Morphogenèse du cœur - Heart morphogenesis (Imagine - Institut Pasteur U1163), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Work in the Meilhac laboratory is supported by core funding from the Institut Pasteur and by state funding from the Agence Nationale de la Recherche under the 'Investissements d'avenir' program (ANR-10-IAHU-01 and Inception program ANR-16-CONV-0005)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016), Meilhac, Sigolène, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs - - INCEPTION2016 - ANR-16-CONV-0005 - CONV - VALID |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Heart Defects
Congenital medicine.medical_specialty Heart morphogenesis Heart disease embryonic heart First year of life heart morphogenesis International Paediatric and Congenital Cardiac Code ICD-11 Internal medicine Conotruncal defect Genetics Animals Humans Medicine mouse models MESH: Animals Molecular Biology Genetics (clinical) Cause of death septal defects Fetus MESH: Humans Embryonic heart Heart development business.industry conotruncal defects [SDV.BDD.MOR]Life Sciences [q-bio]/Development Biology/Morphogenesis valve defects MESH: Heart Defects Congenital medicine.disease congenital heart defects laterality defects [SDV.BDD.MOR] Life Sciences [q-bio]/Development Biology/Morphogenesis MESH: Models Animal Models Animal Cardiology business |
| Zdroj: | Annual Review of Genomics and Human Genetics Annual Review of Genomics and Human Genetics, 2021, 22, pp.257-284. ⟨10.1146/annurev-genom-083118-015012⟩ |
| ISSN: | 1527-8204 |
| DOI: | 10.1146/annurev-genom-083118-015012⟩ |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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