Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Tortigue Marine, Nield Lynne E, Karakachoff Matilde, McLeod Christopher J, Belli Emre, Babu-Narayan Sonya V, Prigent Solène, Boet Angèle, Conway Miriam, Elder Robert W, Ladouceur Magalie, Khairy Paul, Kowalik Ewa, Kalfa David M, Barron David J, Mussa Shafi, Hiippala Anita, Temple Joel, Abadir Sylvia, Le Gloan Laurianne, Lachaud Matthias, Sanatani Shubhayan, Thambo Jean-Benoit, Gronier Céline Grunenwald, Amedro Pascal, Vaksmann Guy, Charbonneau Anne, Koutbi Linda, Ovaert Caroline, Houeijeh Ali, Combes Nicolas, Maury Philippe, Duthoit Guillaume, Hiel Bérengère, Erickson Christopher C, Bonnet Caroline, Van Hare George F, Dina Christian, Karsenty Clément, Fournier Emmanuelle, Le Bloa Mathieu, Pass Robert H, Liberman Leonardo, Happonen Juha-Matti, Perry James C, Romefort Bénédicte, Benbrik Nadir, Hauet Quentin, Fraisse Alain, Gatzoulis Michael A, Abrams Dominic J, Dubin Anne M, Ho Siew Yen, Redon Richard, Bacha Emile A, Schott Jean-Jacques, Baruteau Alban-Elouen
Аннотация
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.