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)
1
INSERM U897, University of Bordeaux, France
2 Department for Internal Medicine
3 DAM/DIF - DAM Île-de-France
4 Universität Heidelberg [Heidelberg] = Heidelberg University
5 Fondazione Santa Lucia [IRCCS]
6 NEMESIS-CRICM - Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière
7 Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon)
8 LPICM - Laboratoire de physique des interfaces et des couches minces [Palaiseau]
9 IMED - Institute for Infectiology
10 CESCM - Centre d'Etudes Supérieures de Civilisation médiévale
11 LEPSE - Écophysiologie des Plantes sous Stress environnementaux
12 LARIBOISIERE - Neurologie - Deparment of Neurology
13 Hôpital Raymond Poincaré [AP-HP]
14 GEOMAR - Helmholtz Centre for Ocean Research [Kiel]
15 UPD7 - Université Paris Diderot - Paris 7
16 U 744, Laboratoire d’Epidémiologie et de Santé Publique
17 CEREGE - Centre européen de recherche et d'enseignement des géosciences de l'environnement
2 Department for Internal Medicine
3 DAM/DIF - DAM Île-de-France
4 Universität Heidelberg [Heidelberg] = Heidelberg University
5 Fondazione Santa Lucia [IRCCS]
6 NEMESIS-CRICM - Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière
7 Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon)
8 LPICM - Laboratoire de physique des interfaces et des couches minces [Palaiseau]
9 IMED - Institute for Infectiology
10 CESCM - Centre d'Etudes Supérieures de Civilisation médiévale
11 LEPSE - Écophysiologie des Plantes sous Stress environnementaux
12 LARIBOISIERE - Neurologie - Deparment of Neurology
13 Hôpital Raymond Poincaré [AP-HP]
14 GEOMAR - Helmholtz Centre for Ocean Research [Kiel]
15 UPD7 - Université Paris Diderot - Paris 7
16 U 744, Laboratoire d’Epidémiologie et de Santé Publique
17 CEREGE - Centre européen de recherche et d'enseignement des géosciences de l'environnement
Stéphanie Debette
- Function : Author
- PersonId : 759687
- ORCID : 0000-0001-8675-7968
- IdRef : 104485833
Barbara Goeggel Simonetti
- Function : Author
Manja Kloss
- Function : Author
Hakan Sarikaya
- Function : Author
Stefan Engelter
- Function : Author
Tiina M Metso
- Function : Author
Alessandro Pezzini
- Function : Author
Vincent Thijs
- Function : Author
Emmanuel Touzé
- Function : Author
Paolo Costa
- Function : Author
Maria Sessa
- Function : Author
Yannick Béjot
- Function : Author
- PersonId : 764169
- ORCID : 0000-0002-2749-857X
Ayse Altintas
- Function : Author
Antti J Metso
- Function : Author
Dominique Hervé
- Function : Author
Christoph Lichy
- Function : Author
Urs Fischer
- Function : Author
- PersonId : 770350
- ORCID : 0000-0003-0521-4051
Chantal Lamy
- Function : Author
- PersonId : 1146447
- ORCID : 0000-0002-9087-4099
- IdRef : 127289399
Hugues Chabriat
- Function : Author
Valeria Caso
- Function : Author
Philippe A Lyrer
- Function : Author
Turgut Tatlisumak
- Function : Author
Tobias Brandt
- Function : Author
Elisabeth Tournier-Lasserve
- Function : Author
Michael Frank
- Function : Author
- PersonId : 760562
- ORCID : 0000-0001-8451-0523
Ralf W Baumgartner
- Function : Author
Caspar Grond-Ginsbach
- Function : Author
Didier Leys
- Function : Author
Anna Bersano
- Function : Author
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.