Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study-Reference-Cited by-同舟云学术

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

Published:2022-06 Issue:3 Volume:15 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Tortigue Marine¹²³^ORCID,Nield Lynne E.⁴^ORCID,Karakachoff Matilde⁵^ORCID,McLeod Christopher J.⁶^ORCID,Belli Emre⁷^ORCID,Babu-Narayan Sonya V.⁸^ORCID,Prigent Solène²³,Boet Angèle⁷,Conway Miriam⁸,Elder Robert W.⁹^ORCID,Ladouceur Magalie¹⁰^ORCID,Khairy Paul¹¹^ORCID,Kowalik Ewa¹²^ORCID,Kalfa David M.¹³,Barron David J.⁴^ORCID,Mussa Shafi¹⁴,Hiippala Anita¹⁵,Temple Joel¹⁶,Abadir Sylvia¹¹¹⁷,Le Gloan Laurianne¹¹⁸,Lachaud Matthias¹⁹,Sanatani Shubhayan²⁰^ORCID,Thambo Jean-Benoit²¹,Gronier Céline Grunenwald²³,Amedro Pascal²¹²²^ORCID,Vaksmann Guy²³^ORCID,Charbonneau Anne²⁴,Koutbi Linda²⁵,Ovaert Caroline²⁶²⁷^ORCID,Houeijeh Ali²⁸^ORCID,Combes Nicolas⁷²⁹^ORCID,Maury Philippe³⁰^ORCID,Duthoit Guillaume³¹,Hiel Bérengère³²,Erickson Christopher C.³³^ORCID,Bonnet Caroline³⁴,Van Hare George F.³⁵^ORCID,Dina Christian¹^ORCID,Karsenty Clément³⁶³⁷,Fournier Emmanuelle⁷^ORCID,Le Bloa Mathieu³⁸^ORCID,Pass Robert H.³⁹,Liberman Leonardo¹³,Happonen Juha-Matti¹⁵,Perry James C.⁴⁰^ORCID,Romefort Bénédicte²,Benbrik Nadir²^ORCID,Hauet Quentin²,Fraisse Alain⁸,Gatzoulis Michael A.⁸,Abrams Dominic J.⁴¹^ORCID,Dubin Anne M.⁴²^ORCID,Ho Siew Yen⁸^ORCID,Redon Richard¹⁴³^ORCID,Bacha Emile A.¹³,Schott Jean-Jacques¹⁴³,Baruteau Alban-Elouen¹²³⁴³^ORCID

Affiliation:

1. Nantes Université, CHU Nantes, CNRS, INSERM, l’institut du thorax, France (M.T., L.L.G., C.D., R.R., J.-J.S., A.-E.B.).

2. Nantes Université, CHU Nantes, Department of Pediatric Cardiology and Pediatric Cardiac Surgery, France (M.T., S.P., C.G.G., B.R., N.B., Q.H., A.-E.B.).

3. Nantes Université, CHU Nantes, INSERM, CIC FEA 1413, France (M.T., S.P., C.G.G., A.-E.B.).

4. Division of Pediatric Cardiology, Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Canada (L.E.N., D.J.B.).

5. Clinique des Données, CHU Nantes, INSERM, CIC 1413, France (M.K.).

6. Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (C.J.M.).

7. Department of Pediatric and Adult Congenital Heart Disase, M3C Marie Lannelongue Hospital, Groupe Hospitalier Saint Joseph, Paris, France (E.B., A.B., N.C., E.F.).

8. National Heart and Lung Institute, Imperial College London, Royal Brompton and Harefield Hospitals, United Kingdom (S.V.B.-N., M.C., A.F., M.A.G., S.Y.H.).

9. Department of Pediatrics, Yale University School of Medicine, New Haven, CT (R.W.E.).

10. Department of Adult Congenital Heart Diseases, M3C Hôpital Européen Georges Pompidou, Paris, France (M.L.).

11. Electrophysiology Service and Adult Congenital Heart Center, Montreal Heart Institute, University of Montreal, Quebec, Canada (P.K., S.A.).

12. Department of Congenital Heart Diseases, National Institute of Cardiology, Warsaw, Poland (E.K.).

13. Department of Pediatric and Congenital Cardiac Surgery, Morgan Stanley Children’s Hospital – New York Presbyterian, Columbia University Medical Center, NY (D.M.K., L.L., E.A.B.).

14. Department of Congenital Cardiac Surgery, University Hospitals Bristol NHS Foundation Trust, United Kingdom (S.M.).

15. Department of Pediatric Cardiology, New Children’s Hospital, Helsinki University Hospital, Finland (A.H., J.-M.H.).

16. Department of Pediatrics, Nemours Cardiac Center, Alfred I. duPont Hospital for Children, Wilmington, DE (J.T.).

17. Division of Cardiology, CHU Mère-Enfant Sainte-Justine, University of Montreal, Quebec, Canada (S.A.).

18. Department of Cardiology, CHU Nantes, Nantes, France (L.L.G.).

19. Department of Pediatric Cardiology, CHU Grenoble, France (M.L.).

20. Division of Cardiology, British Columbia Children’s Hospital, University of British Columbia, Vancouver, Canada (S.S.).

21. Department of Cardiology, CHU Bordeaux, France (J.-B.T., P.A.).

22. PhyMedExp, CNRS, INSERM, University of Montpellier, France (P.A.).

23. Department of Pediatric Cardiology, Hôpital Privé de La Louvière, Lille, France (G.V.).

24. Department of Pediatric and Congenital Cardiology, American Memorial Hospital, CHU Reims, France (A.C.).

25. Department of Cardiology (L.K.), La Timone Hospital, CHU Marseille, France.

26. Department of Pediatric Cardiology (C.O.), La Timone Hospital, CHU Marseille, France.

27. Marseille Medical Genetics, Inserm UMR 1251, Aix-Marseille University, France (C.O.).

28. Department of Pediatric Cardiology, CHRU Lille, France (A.H.).

29. Department of Cardiology, Pasteur Clinic, Toulouse, France (N.C.).

30. Department of Cardiology (P.M.), CHU Toulouse, France.

31. Department of Cardiology, Groupe Hospitalier Pitié Salpétrière, Sorbonne Université, Paris, France (G.D.).

32. Department of Pediatric Cardiology, CHU Amiens, France (B.H.).

33. UDivision of Pediatric Cardiology, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, NE (C.C.E.).

34. Department of Pediatric Cardiology, CHU Lyon, France (C.B.).

35. Division of Pediatric Cardiology, St Louis Children’s Hospital, Washington University School of Medicine (G.F.V.H.).

36. Department of Pediatric and Congenital Cardiology, Children’s Hospital (C.K.), CHU Toulouse, France.

37. Institut des Maladies Métaboliques et Cardiovasculaires, Inserm UMR 1048, Université de Toulouse, France (C.K.).

38. Department of Cardiology, Lausanne University Hospital, University of Lausanne, Switzerland (M.L.B.).

39. Department of Pediatric Cardiology, Mount Sinai Kravis Children’s Hospital, NY (R.H.P.).

40. Department of Pediatrics, Rady Children’s Hospital, University of California San Diego (J.C.P.).

41. Department of Cardiology, Boston Children’s Hospital, Harvard Medical School, MA (D.J.A.).

42. Division of Pediatric Cardiology, Stanford University, Palo Alto, CA (A.M.D.).

43. European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart (R.R., J.-J.S., A.-E.B.).

Abstract

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference38 articles.

1. Birth Prevalence of Congenital Heart Disease Worldwide

2. Congenitally corrected transposition

3. Transposition of the Great Arteries

4. Cardiac Conduction System in Congenitally Corrected Transposition of the Great Arteries and Its Clinical Relevance

5. Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetics of Congenitally Corrected Transposition of the Great Arteries: next generation sequencing shows a mutation load effect for 156 genes involved in cardiac patterning;2023-09-12

2. Management of congenitally corrected transposition from fetal diagnosis to adulthood;Expert Review of Cardiovascular Therapy;2023-05-09

3. Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries;Genes;2022-09-16