Article Dans Une Revue Circulation: Genomic and Precision Medicine Année : 2022

Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study

Angele Boet
Anita Hiippala
  • Fonction : Auteur
Joel Temple
  • Fonction : Auteur
Matthias Lachaud
  • Fonction : Auteur
Shubhayan Sanatani
  • Fonction : Auteur
Jean-Benoit Thambo
  • Fonction : Auteur
Pascal Amedro
  • Fonction : Auteur
Guy Vaksmann
  • Fonction : Auteur
Anne Charbonneau
  • Fonction : Auteur
Linda Koutbi
  • Fonction : Auteur
Ali Houeijeh
  • Fonction : Auteur
Philippe Maury
Guillaume Duthoit
  • Fonction : Auteur
Berengere Hiel
  • Fonction : Auteur
Christopher C. Erickson
  • Fonction : Auteur
Caroline Bonnet
  • Fonction : Auteur
George F. van Hare
  • Fonction : Auteur
Mathieu Le Bloa
  • Fonction : Auteur
Robert H. Pass
  • Fonction : Auteur
Juha-Matti Happonen
  • Fonction : Auteur
James C. Perry
  • Fonction : Auteur
Benedicte Romefort
  • Fonction : Auteur
Nadir Benbrik
  • Fonction : Auteur
Quentin Hauet
  • Fonction : Auteur
Dominic J. Abrams
  • Fonction : Auteur
Anne M. Dubin
  • Fonction : Auteur

Résumé

Background: Congenitally corrected transposition of the great arteries (ccTGA) is a rare disease of unknown cause. We aimed to better understand familial recurrence patterns. Methods: An international, multicentre, retrospective cohort study was conducted in 29 tertiary hospitals in 6 countries between 1990 and 2018, entailing investigation of 1043 unrelated ccTGA probands. Results: Laterality defects and atrioventricular block at diagnosis were observed in 29.9% and 9.3%, respectively. ccTGA was associated with primary ciliary dyskinesia in 11 patients. Parental consanguinity was noted in 3.4% cases. A congenital heart defect was diagnosed in 81 relatives from 69 families, 58% of them being first-degree relatives, including 28 siblings. The most prevalent defects in relatives were dextro-transposition of the great arteries (28.4%), laterality defects (13.6%), and ccTGA (11.1%); 36 new familial clusters were described, including 8 pedigrees with concordant familial aggregation of ccTGA, 19 pedigrees with familial co-segregation of ccTGA and dextro-transposition of the great arteries, and 9 familial co-segregation of ccTGA and laterality defects. In one family co-segregation of ccTGA, dextro-transposition of the great arteries and heterotaxy syndrome in 3 distinct relatives was found. In another family, twins both displayed ccTGA and primary ciliary dyskinesia. Conclusions: 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.

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hal-03780375 , version 1 (10-11-2022)

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Marine Tortigue, Lynne E. Nield, Matilde Karakachoff, Christopher J. Mcleod, Emre Belli, et al.. Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study. Circulation: Genomic and Precision Medicine, 2022, 15 (3), pp.e003464. ⟨10.1161/CIRCGEN.121.003464⟩. ⟨hal-03780375⟩
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