Generalized arteriopathy in patients with cervical artery dissection

Völker, Wolfgang; Besselmann, Michael; Dittrich, Ralf; Nabavi, Darius G.; Konrad, Carsten; Dziewas, Rainer; Evers, Serjoscha; Grewe, Stephan; Krämer, Stefan; Bachmann, R.; Stögbauer, Florian; Ringelstein, E. B.; Kuhlenbäumer, Gregor

doi:10.1212/01.wnl.0000159739.24607.98

Cited by 96 publications

(67 citation statements)

References 16 publications

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“…40 Patients with CAD also often present concomitant arterial anomalies such as fibromuscular dysplasia, 15 aortic root dilation, 41 hyperdistensibility of the arterial wall, 42 or endothelial dysfunction, 43 and an association with intracranial aneurysms 44 and temporal artery histological changes 45 has been suggested by some authors.…”

Section: Genetics Of Sporadic Cad How Important Are Genetic Factors Imentioning

confidence: 99%

The Genetics of Cervical Artery Dissection

Debette

Markus

2009

Stroke

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Background and Purpose-The pathophysiology of cervical artery dissections (CAD), a major cause of ischemic stroke in young adults, is poorly understood. Several arguments suggest a genetic predisposition. Methods-We systematically reviewed all published data on genetic risk factors for CAD and performed a meta-analysis of association studies with the MTHFR C677T polymorphism. Results-Rarely, CAD is associated with a known monogenic connective tissue disease, mainly vascular Ehlers-Danlos syndrome. However, in the large majority of CAD cases, there is no evidence for a known monogenic disease. Several arguments, including the association of CAD with dermal connective tissue abnormalities that are inherited, suggest that genetic factors also play a role in "sporadic" CAD as part of a multifactorial predisposition. We identified 15 genetic association studies: 10 were negative and 5 reported associations of 3 genetic variants in 3 different candidate genes. Two studies reported associations with polymorphisms in ICAM-1 and COL3A1, but neither has been replicated. Three studies reported an association with the MTHFR 677TT genotype, but 3 other studies did not replicate this. A meta-analysis of these data identified an overall significant association of the MTHFR 677TT genotype with CAD (OR, 1.67; 95% CI, 1.21 to 2.31). We also identified 9 studies screening candidate genes for mutations and 4 linkage studies, yielding mostly negative results. Conclusions-Although several interesting hypotheses were generated, the majority of genetic studies in CAD have been negative until now, but they were markedly underpowered. Progress in unraveling the genetics of CAD will require the collection of DNA samples from large multicenter series. (Stroke. 2009;40:e459-e466.)

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Section: Genetics Of Sporadic Cad How Important Are Genetic Factors Imentioning

confidence: 99%

The Genetics of Cervical Artery Dissection

Debette

Markus

2009

Stroke

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“…9,10 Furthermore, evidence for a generalized arteriopathy in spontaneous CAD patients has been previously provided by microscopic signs of tissue weakening in biopsy specimens of the superficial temporal artery. 11 Modern imaging modalities are capable to demonstrate vessel wall inflammation. Specifically, [18F]-fluorodesoxyglucose positron emission tomography CT (PET-CT) is able to detect large vessel inflammation with high sensitivity 12 and may be used to predict the risk of unfavorable outcome in acute aortic dissection.…”

mentioning

confidence: 99%

Vessel Wall Inflammation in Spontaneous Cervical Artery Dissection

Pfefferkorn¹,

Saam²,

Rominger³

et al. 2011

Stroke

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Background and Purpose— Vessel wall inflammation (VWI) may be a pathogenetic factor in cervical artery dissection (CAD). We used contrast-enhanced high-resolution MRI (hrMRI) and positron emission tomography CT (PET-CT) to systematically investigate VWI in spontaneous CAD. Methods— In this monocentric, prospective, observational study, all consecutive patients with acute, MRI-confirmed, spontaneous CAD admitted to our center between August 2007 and August 2009 were included. VWI was defined as perivascular contrast enhancement in hrMRI and increased perivascular [18F]-fluorodesoxyglucose uptake in PET-CT. VWI was further differentiated between local (restricted to the site of dissection) and generalized (exceeding the site of dissection). Results— A total of 37 patients were included. Multiple dissections were seen in 10 patients (27%). Twenty-five patients received both modalities as planned, 8 received only PET-CT, and 4 received only hrMRI. A subset of patients showed signs of a generalized VWI in hrMRI (4/29 patients, 14%) and PET-CT (8/33 patients, 24%). In patients who received both modalities, all with hrMRI signs of generalized VWI were PET-CT positive (3/3), whereas some PET-CT–positive patients were hrMRI-negative (4/7). If present, generalized VWI in hrMRI completely resolved within 6 months. The presence of >2 simultaneous dissections (seen in 2 patients) was significantly associated with generalized VWI in hrMRI ( P =0.015) but marginally not in PET-CT ( P =0.053). Conclusions— A subset of patients with spontaneous CAD showed signs of a generalized transient inflammatory arteriopathy in contrast-enhanced hrMRI and PET-CT. This subset of patients may be more prone to multiple dissections.

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“…Bu sonuçlar diseksiyon patogenezinde mekanik faktörler dışında başka etkenlerin de rol oynadığı fikrini desteklemektedir. Söz konusu mekanizma, özellikle arteriopatilerde görülen, intimal yırtık olmadan vaza vazorumların yırtılması sonucunda intramural hematomun oluşumudur (10).…”

Section: Discussionunclassified

A case of carotid artery dissection devoleped after swimming: The role of heterezygote C677T MTHFR gen mutation

Ersoy¹,

Koç²,

Düzgün³

et al. 2013

Türk Beyin Damar Hast Derg

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Genç serebral inme sebepleri arasında karotis arter diseksiyonu önemli bir yer tutmaktadır. Karotis arter diseksiyonu çoğu zaman spontan olarak gelişmesine rağmen hasta tarafından önemsenmeyen mikro-travmaya bağlı da ortaya çıkabilir. Bu yazıda eforlu yüzme sonrasında gelişen, sadece boyun ağrısı ve boyunda pulsatil şişlikle kliniğimize başvuran, ancak yapılan ileri tetkiklerinde kronik venöz sinüs trombozu ve serebral enfarktüsün de olduğu ortaya çıkan ekstrakranial internal karotis arter diseksiyonlu bir olgu sunulmaktadır. MTHFR gen mutasyonu da saptanan olgu multipl vasküler olayların bir arada nadir görülmesi nedeniyle sunuldu. Anahtar Sözcükler: Karotis arter diseksiyonu, venöz sinüs trombozu, serebral enfarkt, MTHFR gen mutasyonu, yüzme. A CASE OF CAROTID ARTERY DISSECTION DEVOLEPED AFTER SWIMMING: THE ROLE OF HETEREZYGOTE C677T MTHFR GEN MUTATION ABSTRACTCarotid artery dissection is one of the most important causes of cerebral stroke in young age. Although most cases of carotid artery dissection appear spontaneously, sometimes it may result from a microtrauma which the patient doesn't take it seriously. This article reports a case of extracranial internal carotid artery dissection starting from intense swimming and manifesting itself only as neck swelling and neck pain. Other analyses showed that the patient also suffered from a cronic venous sinus thrombosis and stroke. Moreover, genetic testing revealed a MTHFR gene mutation. This case is presented because of the multiple vascular events are seen rarely in the same patient. Key Words: Carotid artery dissection, venous sinus thrombosis, cerebral infarction, MTHFR gene mutation, swimming. GİRİŞKarotis arter diseksiyonu (KAD) genç ve orta yaştaki hastalarda inme etiyolojisinde büyük önem taşımaktadır. İnsidansı 100 000'de 2.6-2.9'dur (1). Tüm yaşlarda görülmesine rağmen en sık beşinci dekatta rastlanır. Erkeklerde hafif predominansi oluşturmakla birlikte (% 56), kadınlarda 5 yaş daha erken ortaya çıkmaktadır (2, 3).En sık görülen diseksiyon tipi eksternal karotis arter diseksiyonudur. Klinik tablo çok hafif belirtilerden (ipsilateral baş ve boyun ağrısı, Horner sendromu) geçici iskemik ataklar (İA) ve serebral iskemiye bağlı ağır bulgulara kadar değişebilir. TİA ve serebral iskemi karotis arter diseksiyonu gelişen olguların % 49-84'ünde görülmektedir (2). Başlıca iskemi gelişme mekanizması diseksiyon yerinde oluşan trombüsten serebral arterlere olan embolidir. Hemodinamik değişiklikler patolojik mekanizmada daha az oranda rol oynamaktadır (4).KAD tanısında renkli doppler ultrasonografi, magnetik rezonans anjiografi (MRA), bilgisayarlı tomografi anjiografi (BTA) ve dijital substraksiyon _____________________________________________________________________________________________________________________________

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Generalized arteriopathy in patients with cervical artery dissection

Cited by 96 publications

References 16 publications

The Genetics of Cervical Artery Dissection

The Genetics of Cervical Artery Dissection

Vessel Wall Inflammation in Spontaneous Cervical Artery Dissection

A case of carotid artery dissection devoleped after swimming: The role of heterezygote C677T MTHFR gen mutation

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