{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:43:39Z","timestamp":1785422619704,"version":"3.56.0"},"reference-count":38,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>Congenitally corrected transposition of the great arteries (ccTGA) is a rare disease of unknown cause. We aimed to better understand familial recurrence patterns.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgen.121.003464","type":"journal-article","created":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T13:52:35Z","timestamp":1652363555000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study"],"prefix":"10.1161","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2898-9856","authenticated-orcid":true,"given":"Marine","family":"Tortigue","sequence":"first","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, France (M.T., L.L.G., C.D., R.R., J.-J.S., A.-E.B.)."},{"name":"Nantes Universit\u00e9, 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.)."},{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, CIC FEA 1413, France (M.T., S.P., C.G.G., A.-E.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1301-0227","authenticated-orcid":true,"given":"Lynne E.","family":"Nield","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Canada (L.E.N., D.J.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4318-9141","authenticated-orcid":true,"given":"Matilde","family":"Karakachoff","sequence":"additional","affiliation":[{"name":"Clinique des Donn\u00e9es, CHU Nantes, INSERM, CIC 1413, France (M.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6851-0152","authenticated-orcid":true,"given":"Christopher J.","family":"McLeod","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (C.J.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8326-6610","authenticated-orcid":true,"given":"Emre","family":"Belli","sequence":"additional","affiliation":[{"name":"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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1558-8447","authenticated-orcid":true,"given":"Sonya V.","family":"Babu-Narayan","sequence":"additional","affiliation":[{"name":"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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol\u00e8ne","family":"Prigent","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, 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.)."},{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, CIC FEA 1413, France (M.T., S.P., C.G.G., A.-E.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e8le","family":"Boet","sequence":"additional","affiliation":[{"name":"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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Conway","sequence":"additional","affiliation":[{"name":"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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4956-8604","authenticated-orcid":true,"given":"Robert W.","family":"Elder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yale University School of Medicine, New Haven, CT (R.W.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4325-3521","authenticated-orcid":true,"given":"Magalie","family":"Ladouceur","sequence":"additional","affiliation":[{"name":"Department of Adult Congenital Heart Diseases, M3C H\u00f4pital Europ\u00e9en Georges Pompidou, Paris, France (M.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4059-3800","authenticated-orcid":true,"given":"Paul","family":"Khairy","sequence":"additional","affiliation":[{"name":"Electrophysiology Service and Adult Congenital Heart Center, Montreal Heart Institute, University of Montreal, Quebec, Canada (P.K., S.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-6822","authenticated-orcid":true,"given":"Ewa","family":"Kowalik","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Diseases, National Institute of Cardiology, Warsaw, Poland (E.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Kalfa","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Congenital Cardiac Surgery, Morgan Stanley Children\u2019s Hospital \u2013 New York Presbyterian, Columbia University Medical Center, NY (D.M.K., L.L., E.A.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3671-5337","authenticated-orcid":true,"given":"David J.","family":"Barron","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Canada (L.E.N., D.J.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shafi","family":"Mussa","sequence":"additional","affiliation":[{"name":"Department of Congenital Cardiac Surgery, University Hospitals Bristol NHS Foundation Trust, United Kingdom (S.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Hiippala","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, New Children\u2019s Hospital, Helsinki University Hospital, Finland (A.H., J.-M.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Temple","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nemours Cardiac Center, Alfred I. duPont Hospital for Children, Wilmington, DE (J.T.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Abadir","sequence":"additional","affiliation":[{"name":"Electrophysiology Service and Adult Congenital Heart Center, Montreal Heart Institute, University of Montreal, Quebec, Canada (P.K., S.A.)."},{"name":"Division of Cardiology, CHU M\u00e8re-Enfant Sainte-Justine, University of Montreal, Quebec, Canada (S.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurianne","family":"Le Gloan","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, France (M.T., L.L.G., C.D., R.R., J.-J.S., A.-E.B.)."},{"name":"Department of Cardiology, CHU Nantes, Nantes, France (L.L.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Lachaud","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, CHU Grenoble, France (M.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9296-7400","authenticated-orcid":true,"given":"Shubhayan","family":"Sanatani","sequence":"additional","affiliation":[{"name":"Division of Cardiology, British Columbia Children\u2019s Hospital, University of British Columbia, Vancouver, Canada (S.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Benoit","family":"Thambo","sequence":"additional","affiliation":[{"name":"Department of Cardiology, CHU Bordeaux, France (J.-B.T., P.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line Grunenwald","family":"Gronier","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, 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.)."},{"name":"Nantes Universit\u00e9, CHU Nantes, INSERM, CIC FEA 1413, France (M.T., S.P., C.G.G., A.-E.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3649-0294","authenticated-orcid":true,"given":"Pascal","family":"Amedro","sequence":"additional","affiliation":[{"name":"Department of Cardiology, CHU Bordeaux, France (J.-B.T., P.A.)."},{"name":"PhyMedExp, CNRS, INSERM, University of Montpellier, France (P.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2061-1437","authenticated-orcid":true,"given":"Guy","family":"Vaksmann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, H\u00f4pital Priv\u00e9 de La Louvi\u00e8re, Lille, France (G.V.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Charbonneau","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Congenital Cardiology, American Memorial Hospital, CHU Reims, France (A.C.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Koutbi","sequence":"additional","affiliation":[{"name":"Department of Cardiology (L.K.), La Timone Hospital, CHU Marseille, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2277-2760","authenticated-orcid":true,"given":"Caroline","family":"Ovaert","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology (C.O.), La Timone Hospital, CHU Marseille, France."},{"name":"Marseille Medical Genetics, Inserm UMR 1251, Aix-Marseille University, France (C.O.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8116-0887","authenticated-orcid":true,"given":"Ali","family":"Houeijeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, CHRU Lille, France (A.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5238-7791","authenticated-orcid":true,"given":"Nicolas","family":"Combes","sequence":"additional","affiliation":[{"name":"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.)."},{"name":"Department of Cardiology, Pasteur Clinic, Toulouse, France (N.C.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4800-1841","authenticated-orcid":true,"given":"Philippe","family":"Maury","sequence":"additional","affiliation":[{"name":"Department of Cardiology (P.M.), CHU Toulouse, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Duthoit","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Groupe Hospitalier Piti\u00e9 Salp\u00e9tri\u00e8re, Sorbonne Universit\u00e9, Paris, France (G.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9reng\u00e8re","family":"Hiel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, CHU Amiens, France (B.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9254-5045","authenticated-orcid":true,"given":"Christopher C.","family":"Erickson","sequence":"additional","affiliation":[{"name":"UDivision of Pediatric Cardiology, University of Nebraska Medical Center, Children\u2019s Hospital and Medical Center, Omaha, NE (C.C.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, CHU Lyon, France (C.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8404-5932","authenticated-orcid":true,"given":"George F.","family":"Van Hare","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, St Louis Children\u2019s Hospital, Washington University School of Medicine (G.F.V.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7722-7348","authenticated-orcid":true,"given":"Christian","family":"Dina","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, France (M.T., L.L.G., C.D., R.R., J.-J.S., A.-E.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9ment","family":"Karsenty","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Congenital Cardiology, Children\u2019s Hospital (C.K.), CHU Toulouse, France."},{"name":"Institut des Maladies M\u00e9taboliques et Cardiovasculaires, Inserm UMR 1048, Universit\u00e9 de Toulouse, France (C.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4473-6760","authenticated-orcid":true,"given":"Emmanuelle","family":"Fournier","sequence":"additional","affiliation":[{"name":"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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8355-1179","authenticated-orcid":true,"given":"Mathieu","family":"Le Bloa","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Lausanne University Hospital, University of Lausanne, Switzerland (M.L.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Pass","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Mount Sinai Kravis Children\u2019s Hospital, NY (R.H.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Liberman","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Congenital Cardiac Surgery, Morgan Stanley Children\u2019s Hospital \u2013 New York Presbyterian, Columbia University Medical Center, NY (D.M.K., L.L., E.A.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha-Matti","family":"Happonen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, New Children\u2019s Hospital, Helsinki University Hospital, Finland (A.H., J.-M.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9520-4660","authenticated-orcid":true,"given":"James C.","family":"Perry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rady Children\u2019s Hospital, University of California San Diego (J.C.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Romefort","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1698-3860","authenticated-orcid":true,"given":"Nadir","family":"Benbrik","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Hauet","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, 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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fraisse","sequence":"additional","affiliation":[{"name":"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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Gatzoulis","sequence":"additional","affiliation":[{"name":"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.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5266-2805","authenticated-orcid":true,"given":"Dominic J.","family":"Abrams","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Boston Children\u2019s Hospital, Harvard Medical School, MA 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