Citations 1
Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study
Tortigue, Marine , Nield, Lynne E. , Karakachoff, Matilde , McLeod, Christopher J. , Belli, Emré , Babu‐Narayan, Sonya V. , Prigent, Solène , Conway, Miriam, Elder, Robert W. , Ladouceur, Magalie , Kowalik, Ewa , Kalfa, David , Mussa, Shafi, Hiippala, Anita , Temple, Joel , Abadir, Sylvia , Gloan, Laurianne Le , Lachaud, Matthias , Sanatani, Shubhayan , Thambo, Jean‐Benoît , Gronier, Céline, Charbonneau, Anne, Koutbi, Linda , Houeijeh, Ali , Combes, Nicolas , Duthoit, Guillaume, Hiel, Bérengère, Erickson, Christopher C. , Bonnet, Caroline , Hare, George F. Van , Dina, Christian , Fournier, Emmanuelle , Bloa, Mathieu Le , Pass, Robert H. , Liberman, Leonardo , Happonen, Juha-Matti, Perry, James C. , Romefort, Bénédicte, Benbrik, Nadir , Hauet, Quentin , Fraisse, Alain , Dubin, Anne M. , Ho, Siew Yen , Redon, Richard , Bacha, Emile , Elder, Robert W , Ladouceur, Magalie , Khairy, Paul , Kowalik, Ewa , Barron, David J , Sanatani, Shubhayan , Amedro, Pascal , Vaksmann, Guy , Ovaert, Caroline , Houeijeh, Ali , Combes, Nicolas , Maury, Philippe , Erickson, Christopher C , Van Hare, George F , Dina, Christian , Fournier, Emmanuelle , Le Bloa, Mathieu , Perry, James C , Benbrik, Nadir , Abrams, Dominic J , Dubin, Anne M , Ho, Siew Yen , Redon, Richard , Baruteau, Alban-Elouen , McLeod, Christopher J , Karakachoff, Matilde , Nield, Lynne E , Babu-Narayan, Sonya V , Belli, Emre , Boët, Angèle , Charbonneau, Anne, Maury, Philippe , Bonnet, Caroline, Karsenty, Clément , Gatzoulis, Michael Α. , Abrams, Dominic J. , Schott, Jean‐Jacques , Baruteau, Alban‐Elouen
Circulation: Genomic and Precision Medicine | May 12, 2022 | Volume: 15 | Issue: 3 | Pages: No page available
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.