Familial recurrence patterns in congenitally corrected transposition of the great arteries: An international study - 14/08/21
, Lynne E. Nield, MD 3, Christopher J. McLeod, MD, PhD 4, Emre Belli, MD 5, Sonya Babu-Narayan, MD, PhD 6, Solène Prigent, MD 2, Angèle Boet, MD, PhD 5, Miriam Conway, MD 6, Robert W. Elder, MD 7, Magalie Ladouceur, MD, PhD 8, Paul Khairy, MD, PhD 9, Eva Kowalik, MD, PhD 10, David M. Kalfa, MD, PhD 11, David J. Barron, MD 3, Shafi Mussa, MD 12, Anita Hiippala, MD 13, Joel Temple, MD 14, Sylvia Abadir, MD 9, 15, Laurianne Le Gloan, MD 16, Mathias Lachaud, MD 17, Shubhayan Sanatani, MD 18, Jean-Benoît Thambo, MD, PhD 19, Céline Grunenwald Gronier, MD 2, Pascal Amedro, MD, PhD 20, 21, Guy Vaksmann, MD 22, Anne Charbonneau, MD 23, Linda Koutbi, MD 24, Caroline Ovaert, MD, PhD 25, 26, Ali Houeijeh, MD 27, Nicolas Combes, MD 5, 28, Philippe Maury, MD 29, Guillaume Duthoit, MD 30, Bérengère Hiel, MD 31, Christopher C. Erickson, MD 32, Caroline Bonnet, MD 33, George F. Van Hare, MD 34, Christian Dina, PhD 1, Matilde Karakachoff, MSc 1, Clément Karsenty, MD 35, 36, Emmanuelle Fournier, MD 5, Mathieu Le Bloa, MD 37, Robert H. Pass, MD 38, Leonardo Liberman, MD 11, Juha-Matti Happonen, MD 13, James C. Perry, MD 39, Alain Fraisse, MD, PhD 6, Michael A. Gatzoulis, MD, PhD 6, Dominic J. Abrams, MD 40, Anne M. Dubin, MD 41, Siew Yen Ho, MD, PhD 6, Richard Redon, PhD 1, 42, Emile A. Bacha, MD 11, Jean-Jacques Schott, PhD 1, 42, Alban-Elouen Baruteau, MD, PhD 1, 2, 42
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Résumé |
Introduction |
Congenitally corrected transposition of the great arteries (ccTGA) is a rare disease of unknown aetiology. We aimed to better understand familial recurrence pattern.
Methods |
An international, multicentre, retrospective cohort study was conducted in 29 tertiary hospitals in 6 countries between 1990 and 2018, leading to investigate 1043 unrelated ccTGA probands.
Results |
Atrioventricular block at diagnosis and laterality defects were observed in 35.4% and 29.9%, respectively. ccTGA associated with primary ciliary dyskinesia in 10 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 (d-TGA: 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 d-TGA and 9 familial co-segregation of ccTGA and laterality defects. In one family there was co-segregation of ccTGA, d-TGA and heterotaxy syndrome in 3 distinct relatives.
Conclusion |
ccTGA is not always a sporadic congenital heart defect. Familial clusters as well as evidence of an association between ccTGA, d-TGA, laterality defects and in some cases primary ciliary dyskinesia strongly suggest a common pathogenetic pathway involving laterality genes in the pathophysiology of ccTGA.
Le texte complet de cet article est disponible en PDF.Keywords : Congenitally corrected transposition of the great arteries, Familial recurrence risk, Laterality defects
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Vol 13 - N° 4
P. 284-285 - septembre 2021 Retour au numéro
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