Familial occurrence and heritable connective tissue disorders in cervical artery dissection

Debette, Stéphanie; Goeggel, Barbara; Schilling, Sabrina; Martin, Juan José; Kloss, Manja; Sarikaya, Hakan; Hausser, Ingrid; Engelter, Stefan; Metso, Tiina M; Pezzini, Alessandro; Thijs, Vincent; Touzé, Emmanuel; Paolucci, Stefano; Costa, Paolo; Sessa, Maria; Samson, Yves; Béjot, Yannick; Altintas, Ayse; Metso, Antti J; Hervé, Dominique; ... (2014). Familial occurrence and heritable connective tissue disorders in cervical artery dissection. Neurology, 83(22), pp. 2023-2031. Lippincott Williams & Wilkins 10.1212/WNL.0000000000001027

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OBJECTIVE 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. METHODS 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. RESULTS 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. CONCLUSIONS 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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Goeggel, Barbara; Sarikaya, Hakan; Jung, Simon; Fischer, Urs and Arnold, Marcel

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0028-3878

Publisher:

Lippincott Williams & Wilkins

Language:

English

Submitter:

Valentina Rossetti

Date Deposited:

07 Nov 2014 08:24

Last Modified:

29 Dec 2017 09:55

Publisher DOI:

10.1212/WNL.0000000000001027

PubMed ID:

25355833

Additional Information:

Debette und Goeggel contributed equally to this work

BORIS DOI:

10.7892/boris.59822

URI:

https://boris.unibe.ch/id/eprint/59822

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