Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome.
J Cardiovasc Dev Dis
; 10(3)2023 Feb 24.
Article
em En
| MEDLINE
| ID: mdl-36975863
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart disease characterized by hypoplasia of left-sided heart structures. The developmental basis for restriction of defects to the left side of the heart in HLHS remains unexplained. The observed clinical co-occurrence of rare organ situs defects such as biliary atresia, gut malrotation, or heterotaxy with HLHS would suggest possible laterality disturbance. Consistent with this, pathogenic variants in genes regulating left-right patterning have been observed in HLHS patients. Additionally, Ohia HLHS mutant mice show splenic defects, a phenotype associated with heterotaxy, and HLHS in Ohia mice arises in part from mutation in Sap130, a component of the Sin3A chromatin complex known to regulate Lefty1 and Snai1, genes essential for left-right patterning. Together, these findings point to laterality disturbance mediating the left-sided heart defects associated with HLHS. As laterality disturbance is also observed for other CHD, this suggests that heart development integration with left-right patterning may help to establish the left-right asymmetry of the cardiovascular system essential for efficient blood oxygenation.
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Base de dados:
MEDLINE
Idioma:
En
Revista:
J Cardiovasc Dev Dis
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos