Familial occurrence and heritable connective tissue disorders in cervical artery dissection.

Stéphanie Debette 1 Barbara Goeggel Simonetti Sabrina Schilling 2 Juan José Martin 3 Manja Kloss Hakan Sarikaya Ingrid Hausser 4 Stefan Engelter Tiina M Metso Alessandro Pezzini Vincent Thijs Emmanuel Touzé Stefano Paolucci 5 Paolo Costa Maria Sessa Yves Samson 6 Yannick Béjot 7 Ayse Altintas Antti J Metso Dominique Hervé Christoph Lichy Simon Jung 8 Urs Fischer 9 Chantal Lamy 10 Armin Grau 11 Hugues Chabriat Valeria Caso Philippe A Lyrer Christian Stapf 12 Turgut Tatlisumak Tobias Brandt Elisabeth Tournier-Lasserve Dominique P Germain 13 Michael Frank 14 Ralf W Baumgartner Caspar Grond-Ginsbach Marie-Germaine Bousser 15 Didier Leys Jean Dallongeville 16 Anna Bersano Marcel Arnold 17
Abstract : In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders. We combined data from 2 large international multicenter cohorts of consecutive patients with CeAD in 23 neurologic departments participating in the CADISP-plus consortium, following a standardized protocol. Frequency of reported family history of CeAD and of inherited connective tissue disorders was assessed. Putative risk factors, baseline features, and 3-month outcome were compared between groups. Among 1,934 consecutive patients with CeAD, 20 patients (1.0%, 95% confidence interval: 0.6%-1.5%) from 17 families (0.9%, 0.5%-1.3%) had a family history of CeAD. Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. Two patients without a family history of CeAD had vascular Ehlers-Danlos syndrome with a mutation in COL3A1. This diagnosis was suspected in 2 additional patients, but COL3A1 sequencing was negative. Two patients were diagnosed with classic and hypermobile Ehlers-Danlos syndrome, one patient with Marfan syndrome, and one with osteogenesis imperfecta, based on clinical criteria only. In this largest series of patients with CeAD to date, family history of symptomatic CeAD was rare and inherited connective tissue disorders seemed exceptional. This finding supports the notion that CeAD is a multifactorial disease in the vast majority of cases.
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https://hal.inria.fr/hal-01253338
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Soumis le : samedi 9 janvier 2016 - 18:52:53
Dernière modification le : jeudi 12 avril 2018 - 01:49:41

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Stéphanie Debette, Barbara Goeggel Simonetti, Sabrina Schilling, Juan José Martin, Manja Kloss, et al.. Familial occurrence and heritable connective tissue disorders in cervical artery dissection.. Neurology, American Academy of Neurology, 2014, 83 (22), pp.2023-31. 〈hal-01253338〉

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