biostudies-literatureWells JRAmerican Heart AssociationIndiana UniversityNHLBI NIH HHSNational Institutes of Health101937https://www.ebi.ac.uk/biostudies/studies/S-EPMC10698510biostudies-literatureUnknown75Heterotaxy is a disorder with complex congenital heart defects and diverse left-right (LR) patterning defects in other organ systems. Despite evidence suggesting a strong genetic component in heterotaxy, the majority of molecular causes remain unknown. Established genes often involve a ciliated, embryonic structure known as the left-right organizer (LRO). Herein, we focus on genetic discoveries in heterotaxy in the past two years. These include complex genetic architecture, novel mechanisms regulating cilia formation, and evidence for conservation of LR patterning between distant species. We feature new insights regarding established LR signaling pathways, bring attention to heterotaxy candidate genes in novel pathways, and provide an extensive overview of genes previously associated with laterality phenotypes in humans.Current opinion in genetics & developmentThe genetic landscape of cardiovascular left-right patterning defects.PMC10698510AHA19TPA34850054P01 HL134599P01 HL 134599Ware SMPadua MBWells JRfalseThe genetic landscape of cardiovascular left-right patterning defects.Heterotaxy is a disorder with complex congenital heart defects and diverse left-right (LR) patterning defects in other organ systems. Despite evidence suggesting a strong genetic component in heterotaxy, the majority of molecular causes remain unknown. Established genes often involve a ciliated, embryonic structure known as the left-right organizer (LRO). Herein, we focus on genetic discoveries in heterotaxy in the past two years. These include complex genetic architecture, novel mechanisms regulating cilia formation, and evidence for conservation of LR patterning between distant species. We feature new insights regarding established LR signaling pathways, bring attention to heterotaxy candidate genes in novel pathways, and provide an extensive overview of genes previously associated with laterality phenotypes in humans.2022-01-01T00:00:00Z2022 Aug2025-04-05T13:01:24.061Z2025-04-05T13:01:24.061ZS-EPMC106985103577734810.1016/j.gde.2022.101937