Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.
Ellis–Van Creveld syndrome
congenital heart disease
del22q11 deletion syndrome
down syndrome
genetic syndrome
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
08 07 2021
08 07 2021
Historique:
received:
24
05
2021
revised:
29
06
2021
accepted:
05
07
2021
entrez:
6
8
2021
pubmed:
7
8
2021
medline:
2
2
2022
Statut:
epublish
Résumé
Recent advances in understanding the genetic causes and anatomic subtypes of cardiac defects have revealed new links between genetic etiology, pathogenetic mechanisms and cardiac phenotypes. Although the same genetic background can result in different cardiac phenotypes, and similar phenotypes can be caused by different genetic causes, researchers' effort to identify specific genotype-phenotype correlations remains crucial. In this review, we report on recent advances in the cardiac pathogenesis of three genetic diseases: Down syndrome, del22q11.2 deletion syndrome and Ellis-Van Creveld syndrome. In these conditions, the frequent and specific association with congenital heart defects and the recent characterization of the underlying molecular events contributing to pathogenesis provide significant examples of genotype-phenotype correlations. Defining these correlations is expected to improve diagnosis and patient stratification, and it has relevant implications for patient management and potential therapeutic options.
Identifiants
pubmed: 34356063
pii: genes12071047
doi: 10.3390/genes12071047
pmc: PMC8307133
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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