Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study.
Marine TortigueLynne E NieldMatilde KarakachoffChristopher J McLeodEmre BelliSonya V Babu-NarayanSolène PrigentAngèle BoetMiriam ConwayRobert W ElderMagalie LadouceurPaul KhairyEwa KowalikDavid M KalfaDavid J BarronShafi MussaAnita HiippalaJoel TempleSylvia AbadirLaurianne Le GloanMatthias LachaudShubhayan SanataniJean-Benoit ThamboCéline Grunenwald GronierPascal AmedroGuy VaksmannAnne CharbonneauLinda KoutbiCaroline OvaertAli HoueijehNicolas CombesPhilippe MauryGuillaume DuthoitBérengère HielChristopher C EricksonCaroline BonnetGeorge F Van HareChristian DinaClément KarsentyEmmanuelle FournierMathieu Le BloaRobert H PassLeonardo LibermanJuha-Matti HapponenJames C PerryBénédicte RomefortNadir BenbrikQuentin HauetAlain FraisseMichael A GatzoulisDominic J R AbramsAnne M DubinSiew Yen HoRichard RedonEmile A BachaJean-Jacques SchottAlban-Elouen BaruteauPublished in: Circulation. Genomic and precision medicine (2022)
ccTGA is not always a sporadic congenital heart defect. Familial clusters as well as evidence of an association between ccTGA, dextro-transposition of the great arteries, laterality defects and in some cases primary ciliary dyskinesia, strongly suggest a common pathogenetic pathway involving laterality genes in the pathophysiology of ccTGA.