Cargando…
Genetics of congenital heart disease: a narrative review of recent advances and clinical implications
Congenital heart disease (CHD) is the most common human birth defect and remains a leading cause of mortality in childhood. Although advances in clinical management have improved the survival of children with CHD, adult survivors commonly experience cardiac and non-cardiac comorbidities, which affec...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506053/ https://www.ncbi.nlm.nih.gov/pubmed/34733677 http://dx.doi.org/10.21037/tp-21-297 |
_version_ | 1784581660160819200 |
---|---|
author | Yasuhara, Jun Garg, Vidu |
author_facet | Yasuhara, Jun Garg, Vidu |
author_sort | Yasuhara, Jun |
collection | PubMed |
description | Congenital heart disease (CHD) is the most common human birth defect and remains a leading cause of mortality in childhood. Although advances in clinical management have improved the survival of children with CHD, adult survivors commonly experience cardiac and non-cardiac comorbidities, which affect quality of life and prognosis. Therefore, the elucidation of genetic etiologies of CHD not only has important clinical implications for genetic counseling of patients and families but may also impact clinical outcomes by identifying at-risk patients. Recent advancements in genetic technologies, including massively parallel sequencing, have allowed for the discovery of new genetic etiologies for CHD. Although variant prioritization and interpretation of pathogenicity remain challenges in the field of CHD genomics, advances in single-cell genomics and functional genomics using cellular and animal models of CHD have the potential to provide novel insights into the underlying mechanisms of CHD and its associated morbidities. In this review, we provide an updated summary of the established genetic contributors to CHD and discuss recent advances in our understanding of the genetic architecture of CHD along with current challenges with the interpretation of genetic variation. Furthermore, we highlight the clinical implications of genetic findings to predict and potentially improve clinical outcomes in patients with CHD. |
format | Online Article Text |
id | pubmed-8506053 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | AME Publishing Company |
record_format | MEDLINE/PubMed |
spelling | pubmed-85060532021-11-02 Genetics of congenital heart disease: a narrative review of recent advances and clinical implications Yasuhara, Jun Garg, Vidu Transl Pediatr Review Article Congenital heart disease (CHD) is the most common human birth defect and remains a leading cause of mortality in childhood. Although advances in clinical management have improved the survival of children with CHD, adult survivors commonly experience cardiac and non-cardiac comorbidities, which affect quality of life and prognosis. Therefore, the elucidation of genetic etiologies of CHD not only has important clinical implications for genetic counseling of patients and families but may also impact clinical outcomes by identifying at-risk patients. Recent advancements in genetic technologies, including massively parallel sequencing, have allowed for the discovery of new genetic etiologies for CHD. Although variant prioritization and interpretation of pathogenicity remain challenges in the field of CHD genomics, advances in single-cell genomics and functional genomics using cellular and animal models of CHD have the potential to provide novel insights into the underlying mechanisms of CHD and its associated morbidities. In this review, we provide an updated summary of the established genetic contributors to CHD and discuss recent advances in our understanding of the genetic architecture of CHD along with current challenges with the interpretation of genetic variation. Furthermore, we highlight the clinical implications of genetic findings to predict and potentially improve clinical outcomes in patients with CHD. AME Publishing Company 2021-09 /pmc/articles/PMC8506053/ /pubmed/34733677 http://dx.doi.org/10.21037/tp-21-297 Text en 2021 Translational Pediatrics. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Review Article Yasuhara, Jun Garg, Vidu Genetics of congenital heart disease: a narrative review of recent advances and clinical implications |
title | Genetics of congenital heart disease: a narrative review of recent advances and clinical implications |
title_full | Genetics of congenital heart disease: a narrative review of recent advances and clinical implications |
title_fullStr | Genetics of congenital heart disease: a narrative review of recent advances and clinical implications |
title_full_unstemmed | Genetics of congenital heart disease: a narrative review of recent advances and clinical implications |
title_short | Genetics of congenital heart disease: a narrative review of recent advances and clinical implications |
title_sort | genetics of congenital heart disease: a narrative review of recent advances and clinical implications |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506053/ https://www.ncbi.nlm.nih.gov/pubmed/34733677 http://dx.doi.org/10.21037/tp-21-297 |
work_keys_str_mv | AT yasuharajun geneticsofcongenitalheartdiseaseanarrativereviewofrecentadvancesandclinicalimplications AT gargvidu geneticsofcongenitalheartdiseaseanarrativereviewofrecentadvancesandclinicalimplications |