Assessment of skin extensibility and joint hypermobility in patients with spontaneous cervical artery dissection and Ehlers–Danlos syndrome

Introduction: Mitral valve prolapse and aortic root dilatation are reported in association with hypermobile Ehlers–Danlos syndrome (hEDS), but the full phenotypic spectrum of cardiovascular complications in this condition has not been studied in the aftermath of updated nosology and diagnostic criteria. Methods: We performed a retrospective review of 258 patients (> 94% adults) referred to a multidisciplinary clinic for evaluation of joint hypermobility between January 2017 and December 2020 and diagnosed with hEDS or a hypermobility spectrum disorder (HSD) to determine the incidence and spectrum of cardiovascular involvement. Results: Mitral valve prolapse was present in 7.5% and thoracic aortic dilatation in 15.2%. Aortic dilatation was more frequent in individuals with hEDS (20.7%) than with HSD (7.7%) and similarly prevalent between males and females, although was mild in > 90% of females and moderate-to-severe in 50% of males. Five individuals (1.9%) with hEDS/HSD had extra-aortic arterial involvement, including cervical artery dissection (CeAD, n = 2), spontaneous coronary artery dissection (SCAD, n = 2), and SCAD plus celiac artery pseudoaneurysm ( n = 1). This is the first series to report the prevalence of CeAD and SCAD in hEDS/HSD. Conclusions: Cardiovascular manifestations in adults with hEDS/HSD, especially females, are typically mild and readily assessed by echocardiography. Since the risk of progression has not yet been defined, adults with hEDS/HSD who are found to have aortic dilatation at baseline should continue ongoing surveillance to monitor for progressive dilatation. Cardiovascular medicine specialists, neurologists, and neurosurgeons should consider hEDS/HSD on the differential for patients with CeAD or SCAD who also have joint hypermobility.

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Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers–Danlos syndrome

Blood Pressure ◽

10.1080/08037051.2018.1557507 ◽

2019 ◽

Vol 28 (2) ◽

pp. 139-143

Author(s):

Caroline Henrard ◽

Hendrica Belge ◽

Sophie Fastré ◽

Silvia Di Monaco ◽

Nicole Revencu ◽

...

Keyword(s):

Fibromuscular Dysplasia ◽

Artery Dissection ◽

Cervical Artery Dissection ◽

Ehlers Danlos Syndrome ◽

Cervical Artery ◽

Danlos Syndrome

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Spontaneous Cervical Artery Dissection in Vascular Ehlers-Danlos Syndrome

Stroke ◽

10.1161/strokeaha.120.032106 ◽

2021 ◽

Vol 52 (5) ◽

pp. 1628-1635

Author(s):

Salma Adham ◽

Clarisse Billon ◽

Anne Legrand ◽

Valérie Domigo ◽

Nicolas Denarié ◽

...

Keyword(s):

Transient Ischemic Attack ◽

Primary Objective ◽

Artery Dissection ◽

Cervical Artery Dissection ◽

Ehlers Danlos Syndrome ◽

Tertiary Referral Center ◽

Arterial Complications ◽

Cervical Artery ◽

Ischemic Attack ◽

Danlos Syndrome

Background and Purpose: Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disorder because of pathogenic variants in the COL3A1 gene. Arterial complications can affect all anatomic areas and about 25% involve supra-aortic trunks (SATs) but no systematic assessment of cervical artery lesions has been made. The primary objective was to determine an accurate prevalence of spontaneous SAT lesions in a large series of patients with vascular Ehlers-Danlos syndrome at diagnosis and during follow-up. Secondary objectives were to study their neurological consequences (transient ischemic attack or stroke) and the possible relationships with sex, genotype, ascertainment status. Methods: A retrospective review of a monocentric cohort of patients with molecularly proven vascular Ehlers-Danlos syndrome followed in a tertiary referral center from 2000 to 2017. Results: One hundred forty-four patients were analyzed, 56.9% (n=82) had SAT lesions: 64.6% females, 74.4% index-case patients. Most lesions were identified in early arterial assessment (48% at first work-up, mean age of 35.7±13.0 years). Cumulative incidence of a first identification of a SAT lesion was 41.7% at 40 years old. On the complete period of survey, 183 SAT lesions (with 132 dissections and 33 aneurysms) were identified, mainly in internal carotid arteries (56.3%) and vertebral arteries (28.9%), more rarely in patients with COL3A1 null mutations ( P =0.008). Transient ischemic attack or stroke were reported in n=16 (19.5%) of the 82 patients with SAT lesions without relation with age, sex, treatment, or hypertension. Conclusions: Cervical artery lesions are frequent and mostly asymptomatic in patients with vascular Ehlers-Danlos syndrome. Local dissections and aneurysms are the most frequent type of lesions, but transient ischemic attack or stroke seem rare.

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Successful stent placement for cervical artery dissection associated with the Ehlers—Danlos syndrome

Journal of Neurosurgery ◽

10.3171/jns.2003.99.6.1077 ◽

2003 ◽

Vol 99 (6) ◽

pp. 1077-1081 ◽

Cited By ~ 18

Author(s):

Akira Kurata ◽

Hidehiro Oka ◽

Taketomo Ohmomo ◽

Hitoshi Ozawa ◽

Sachio Suzuki ◽

...

Keyword(s):

Clinical Course ◽

Dissecting Aneurysm ◽

Artery Dissection ◽

Cervical Artery Dissection ◽

Severe Stenosis ◽

Ehlers Danlos Syndrome ◽

Content Type ◽

Type Iv ◽

The Common ◽

Danlos Syndrome

✓ This 44-year-old man with Ehlers—Danlos syndrome (EDS) Type IV presented with hemiparesis and the Gerstmann syndrome. Left carotid artery (CA) angiography revealed a dissecting aneurysm with severe stenosis located in the common CA; the lesion was successfully treated with a stent graft. The patient's clinical course after endovascular surgery was uneventful, without occurrence of megacolon. The literature for spontaneous CA dissection in EDS Type IV cases is reviewed and points for investigation and treatment are discussed.

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Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV

Journal of Neurosurgery ◽

10.3171/jns.1991.74.6.0991 ◽

1991 ◽

Vol 74 (6) ◽

pp. 991-998 ◽

Cited By ~ 60

Author(s):

Wouter I. Schievink ◽

David G. Piepgras ◽

Franklin Earnest ◽

Hymie Gordon

Keyword(s):

Early Recognition ◽

Artery Dissection ◽

Cervical Artery Dissection ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Content Type ◽

Type Iv ◽

Bilateral Carotid ◽

The Mean ◽

Danlos Syndrome

✓ Spontaneous bilateral carotid-cavernous fistulae and cervical artery dissection is reported in a 20-year-old woman with Ehlers-Danlos syndrome Type IV. The clinical features of 16 previously published cases of spontaneous carotid-cavernous fistulae associated with Ehlers-Danlos syndrome Type IV are reviewed, for a total of 17 cases. The mean age of the 14 women and three men was 31.6 years. Only direct fistulae were encountered. Diagnostic neuroangiography carried morbidity and mortality rates of 36% and 12%, respectively; neuroradiological treatment resulted in death in one of six patients. The possible value of desmopressin in the management of these patients is discussed. In view of the risks of arterial puncture and surgery, the authors emphasize the importance of early recognition of Ehlers-Danlos syndrome.

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Abstract 3854: Family History Of Cervical Artery Dissection In A Large Multicenter Cohort: The CADISP Study

Stroke ◽

10.1161/str.43.suppl_1.a3854 ◽

2012 ◽

Vol 43 (suppl_1) ◽

Author(s):

Stephanie Debette ◽

Juan Jose Martin ◽

Manja Kloss ◽

Stefan Engelter ◽

Tiina Metso ◽

...

Keyword(s):

Ischemic Stroke ◽

Family History ◽

Disease Incidence ◽

Artery Dissection ◽

Cervical Artery Dissection ◽

Degree Relative ◽

Ehlers Danlos Syndrome ◽

Multicenter Cohort ◽

Cervical Artery ◽

History Of

Background: Little data is available on familial occurrence of cervical artery dissection (CEAD), a major cause of ischemic stroke in young adults. We aimed to examine the prevalence of family history of CEAD in a large multicenter cohort of CEAD patients and compare characteristics of CEAD patients with and without such a family history. Methods: Across 18 neurological departments in 8 countries, consecutive patients with a diagnosis of CEAD were included in the CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) cohort study following a standardized protocol and using the same questionnaire. Results: Among 921 consecutive CEAD patients, 11 patients (1.2%, 95%CI:0.5-1.9%) from 9 families (1.0%, 0.3-1.6%) had a family history of CEAD, mostly in a first degree relative (64%). One patient without family history of CEAD had biologically confirmed vascular Ehlers-Danlos syndrome, while none of the patients with a family history of CEAD had a diagnosis of known inherited connective tissue disorder. Risk factors, baseline features, and 3-month outcome did not differ significantly between CEAD patients with and without a family history of CEAD. Conclusion: In the largest series of CEAD patients to date, family history of CEAD was very rare, although slightly higher than expected by chance given the low disease incidence.

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