Imperial College London
Alternate

DrSonyaBabu-Narayan

Faculty of Medicine, National Heart & Lung Institute

Reader in Adult Congenital Heart Disease
 
 
 
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Contact

 

+44 (0)20 7351 8803s.babu-narayan

 
 
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Location

 

NIHR Cardiovascular Biomedical RChelsea WingRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Tortigue:2022:10.1161/CIRCGEN.121.003464,
author = {Tortigue, M and Nield, LE and Karakachoff, M and McLeod, CJ and Belli, E and Babu-Narayan, SV and Prigent, S and Boet, A and Conway, M and Elder, RW and Ladouceur, M and Khairy, P and Kowalik, E and Kalfa, DM and Barron, DJ and Mussa, S and Hiippala, A and Temple, J and Abadir, S and Le, Gloan L and Lachaud, M and Sanatani, S and Thambo, J-B and Gronier, CG and Amedro, P and Vaksmann, G and Charbonneau, A and Koutbi, L and Ovaert, C and Houeijeh, A and Combes, N and Maury, P and Duthoit, G and Hiel, B and Erickson, CC and Bonnet, C and Van, Hare GF and Dina, C and Karsenty, C and Fournier, E and Le, Bloa M and Pass, RH and Liberman, L and Happonen, J-M and Perry, JC and Romefort, B and Benbrik, N and Hauet, Q and Fraisse, A and Gatzoulis, MA and Abrams, DJ and Dubin, AM and Ho, SY and Redon, R and Bacha, EA and Schott, J-J and Baruteau, A-E},
doi = {10.1161/CIRCGEN.121.003464},
journal = {Circulation: Genomic and Precision Medicine},
pages = {1--11},
title = {Familial recurrence patterns in congenitally corrected transposition of the great arteries: an international study},
url = {http://dx.doi.org/10.1161/CIRCGEN.121.003464},
volume = {15},
year = {2022}
}
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TY  - JOUR
AB  - 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.
AU  - Tortigue,M
AU  - Nield,LE
AU  - Karakachoff,M
AU  - McLeod,CJ
AU  - Belli,E
AU  - Babu-Narayan,SV
AU  - Prigent,S
AU  - Boet,A
AU  - Conway,M
AU  - Elder,RW
AU  - Ladouceur,M
AU  - Khairy,P
AU  - Kowalik,E
AU  - Kalfa,DM
AU  - Barron,DJ
AU  - Mussa,S
AU  - Hiippala,A
AU  - Temple,J
AU  - Abadir,S
AU  - Le,Gloan L
AU  - Lachaud,M
AU  - Sanatani,S
AU  - Thambo,J-B
AU  - Gronier,CG
AU  - Amedro,P
AU  - Vaksmann,G
AU  - Charbonneau,A
AU  - Koutbi,L
AU  - Ovaert,C
AU  - Houeijeh,A
AU  - Combes,N
AU  - Maury,P
AU  - Duthoit,G
AU  - Hiel,B
AU  - Erickson,CC
AU  - Bonnet,C
AU  - Van,Hare GF
AU  - Dina,C
AU  - Karsenty,C
AU  - Fournier,E
AU  - Le,Bloa M
AU  - Pass,RH
AU  - Liberman,L
AU  - Happonen,J-M
AU  - Perry,JC
AU  - Romefort,B
AU  - Benbrik,N
AU  - Hauet,Q
AU  - Fraisse,A
AU  - Gatzoulis,MA
AU  - Abrams,DJ
AU  - Dubin,AM
AU  - Ho,SY
AU  - Redon,R
AU  - Bacha,EA
AU  - Schott,J-J
AU  - Baruteau,A-E
DO  - 10.1161/CIRCGEN.121.003464
EP  - 11
PY  - 2022///
SN  - 2574-8300
SP  - 1
TI  - Familial recurrence patterns in congenitally corrected transposition of the great arteries: an international study
T2  - Circulation: Genomic and Precision Medicine
UR  - http://dx.doi.org/10.1161/CIRCGEN.121.003464
UR  - https://www.ahajournals.org/doi/10.1161/CIRCGEN.121.003464
VL  - 15
ER  -
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