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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant disorder that results from mutations in the COL3A1 gene, which encodes chains of type III procollagen. Individuals with this disorder are predisposed to rupture of arteries, the bowel, and the gravid uterus. To assess the frequency of central nervous system complications, we reviewed clinical data concerning 202 individuals with EDS type IV from 121 families in which the diagnosis was confirmed by biochemical or molecular studies. We identified 19 individuals with cerebrovascular complications, which included intracranial aneurysms with secondary hemorrhage, spontaneous carotid-cavernous sinus fistula, and cercical artery dissection. The mean age at presentation with these events was 28.3 years (range, 17-48 years). Although uncommon, EDS type IV is an important potential cause of stroke in young people. The disorder is readily identifiable clinically and the diagnosis has important implications for acute and long-term management and, potentially, for other family members. Because conventional angiography may exacerbate severe complications, noninvasive procedures such as Doppler and magnetic resonance angiography are the investigations of choice. Anticoagulation therapy may result in increased bruising or bleeding and should be used with caution.
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PMID:Cerebrovascular complications in Ehlers-Danlos syndrome type IV. 852 72

Few studies have been devoted to the natural history of cervical artery dissection (CAD). This review shows that apart from neurological damage due to initial stroke, the prognosis of DAC is good. Indeed, the risk of recurrent DAC or recurrent stroke is very low, under 1% per year in patients without typical connective tissue disease. Patients with connective tissue disease (Ehlers Danlos syndrome or Marfan syndrome) or familial history of arterial dissection have an increased risk of recurrent CAD. However, the number of cases due to these diseases remains very low. The other risk factors for recurrent CAD or stroke remain unknown. The benefit of antithrombotic treatments at the acute phase of CAD or for secondary prevention has been never assessed in a randomized clinical trial.
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PMID:[Natural history of cervical arterial dissections. Review of the literature and preliminary results from a national study group]. 1253 42

Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, two of which were associated with TAA and one with AD. Segregation analysis showed that the distribution of these vascular abnormalities was more likely compatible with a single genetic defect with an autosomal dominant pattern of inheritance. There were no clinical signs of Marfan, Elhers-Danlos vascular type or Char syndromes. Genetic linkage analysis was performed for seven genes or loci implicated in familial TAA/AD disease (COL3A1, FBN1, 3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-q24), Char syndrome (TFAP2B) or autosomal recessive PDA (12q24). Using different genetic models, linkage with these seven loci was excluded. Familial TAA/AD with PDA is likely to be a particular heritable vascular disorder, with an as yet undiscovered Mendelian genetic basis.
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PMID:Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. 1472 81

Monogenic causes of stroke are rare but should not be missed by the neurologist. The purpose of this review is to aid the reader in the evaluation of a patient with cryptogenic stroke with or without a family history suspicious for an inherited condition. The clinical findings, diagnosis, and management of monogenic causes of stroke and stroke look-alikes are discussed, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry's disease, vascular Ehlers-Danlos, Marfan syndrome, sickle cell disease, the thrombophilias, hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, hereditary cerebral hemorrhage with amyloidosis, and mitochondrial encephalopathy, lactic acidosis, and strokelike episodes. A quick review of systems designed to screen for genetic stroke causes is presented. By correlating stroke subtype with phenotype, this review will familiarize the clinician with indications for focused genetic testing in appropriate patients.
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PMID:Single-gene stroke disorders. 1647 42

A 41-year-old man with hypertension and hyperlipidemia who complained of left hemiparesis after a temporal headache was admitted to our hospital. A cervical MRI with gadolinium enhancement revealed an intramural hematoma is compatible with right extracranial internal carotid artery dissection. Two weeks later, he complained of sudden onset of pain in the right side of his neck. The right extracranial internal carotid artery dissection followed by the right extracranial vertebral artery dissection was diagnosed. Spontaneous cervical artery dissection (SCAD) is one of the causes of stroke in young adults. The pathogenesis of SCAD remains unknown. Minor trauma like an excessive sneeze, migraine, and connective tissue disorders such as fibromuscular dysplasia and Ehlers-Danlos syndrome are well-known as risk factors for SCAD. Pathologically skin collagen abnormalities have been seen in German patients with SCAD without clinical evidence for any specific connective tissue disorder. We examined the ultrastructural morphology of the Japanese patient's dermal connective tissue components by electron microscopy. The patient's collagen fibers contained fibrils with highly variable diameters, and there were other ultrastructural abnormalities, including flower-like fibrils and large-diameter composite fibrils. This is the first report of a case of ultrastructural abnormalities of dermal connective tissue in a Japanese patient with SCAD.
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PMID:[Skin collagen abnormalities in a Japanese patient with extracranial internal carotid artery dissection followed by extracranial vertebral artery dissection]. 1661 39

Spontaneous cervical artery dissections (sCAD) often occur in otherwise healthy individuals without known risk factors for stroke and frequently develop spontaneously without relevant trauma. An underlying arteriopathy leading to a so-called 'weakness of the vessel wall' and predisposing certain individuals to dissection has often been postulated. Therefore, the morphology of connective tissue, a main component of vessel wall and environment, was investigated in carotids and skin. While the overall morphology of dermal connective tissue is normal, about half of patients with sCAD show mild ultrastructural connective tissue alterations. These ultrastructural morphological aberrations can be designated either as 'Ehlers-Danlos syndrome (EDS) III-like', resembling mild findings in patients with the hypermobility type of EDS (EDS III); or coined 'EDS IV-like' with collagen fibers containing fibrils with highly variable diameters resembling mild findings in vascular EDS; or the abnormalities are restricted to the elastic fibers (with fragmentation and minicalcifications) without significant alterations in the morphology of the collagen fibrils. These findings had some similarity with the morphology found in heterozygous carriers of pseudoxanthoma elasticum. A grading scale according to the severity of the findings has been introduced. Similar connective tissue abnormalities were detected in some first-degree relatives of patients with sCAD showing hereditary at least in a subgroup. They can serve as a phenotypic marker for further genetic studies in patients with sCAD and large families to possibly identify the underlying basic molecular defect(s). Very few of patients (<5%) with sCAD and connective tissue abnormalities have clinical manifestations of skin, joint, or skeletal abnormalities of a defined heritable connective tissue disorder. In specimens of arterial walls of carotid, aortic, and renal arteries of patients with sCAD, pronounced systemic, histopathological, and ultrastructural abnormalities were detected with elastic fiber fragmentation and medial degeneration, described before only in a few patients with known hereditary connective tissue diseases such as the Marfan syndrome. We hypothesize that a major part of sCAD cases represents a manifestation of a connective tissue disorder with a vascular phenotype.
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PMID:Association of cervical artery dissection with connective tissue abnormalities in skin and arteries. 1729 Jan 8

Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string-of-beads' appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions. Renovascular hypertension is the most common manifestation of renal artery FMD. Multifocal stenoses with the 'string-of-beads' appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches. Cervicocranial FMD can be complicated by dissection with headache, Horner's syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage. The etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases. Noninvasive diagnostic tests include, in increasing order of accuracy, ultrasonography, magnetic resonance angiography and computed tomography angiography. The gold standard for diagnosing FMD is catheter angiography, but this invasive procedure is only used for patients in whom it is clinically pertinent to proceed with revascularization during the same procedure. Differential diagnosis include atherosclerotic stenoses and stenoses associated with vascular Ehlers-Danlos and Williams' syndromes, and type 1 neurofibromatosis. Management of cases with renovascular hypertension includes antihypertensive therapy, percutaneous angioplasty of severe stenoses, and reconstructive surgery in cases with complex FMD that extends to segmental arteries. The therapeutic options for securing ruptured intracerebral aneurysms are microvascular neurosurgical clipping and endovascular coiling. Stenosis progression in renal artery FMD is slow and rarely leads to ischemic renal failure.
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PMID:Fibromuscular dysplasia. 1755 81

Giant intracranial aneurysms may not be amenable to direct surgical clipping or endovascular coiling because of three critical factors: 1) lack of clear aneurysmal neck; 2) giant size; 3) involvement with critical perforating or branch vessels. Techniques of flow redirection, however, may offer an alternative treatment strategy for these difficult lesions. In this paper, we report on the use of this alternative strategy in the successful treatment of a left giant fusiform carotid terminus-M1 aneurysm in a 16 year-old boy suffering from Ehler-Danlos disease. This patient was admitted to our Institution because his aneurysm was continuing to be increasing in size, despite a previous ligation of his left cervical ICA which was performed at another institution 2 years earlier after the patient had experienced a hemorrhagic stroke. Upon admission, a neurological examination revealed a slight motor aphasia with mild right hemiparesis, remnant of the ancient stroke. Because of its size and the involvement with M1 perforating arteries, a direct aneurysm attack was deemed inadvisable. After an initial ECA-ICA high flow bypass which spontaneously thrombosed, we performed a repeated high flow bypass with the application of a single clip on M1, right distal to the fusiform dilatation. After an uneventful postoperative course, we were unable to observe any new neurological deficits after surgery. A CT scan on postoperative day 1 revealed that the aneurysm had undergone a spontaneous thrombosis which was completely obliterated at the time of a 6-month follow-up angiogram. At that time, the ECA-ICA bypass was found to be patent. In conclusion the alternative of flow alteration strategies can be successfully used in the treatment of aneurysms that cannot be safely trapped or occluded by traditional neurosurgical methods.
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PMID:Obliteration of a giant fusiform carotid terminus-M1 aneurysm after distal clip application and extracranial-intracranial bypass. Case report. 1757 Oct 38

1. Arterial stiffness, which has independent predictive value for cardiovascular events, seems to have a genetic component, largely independent of the influence of blood pressure and other cardiovascular risk factors. 2. In animal models of essential hypertension (stroke-prone spontaneously hypertensive rats and spontaneously hypertensive rats), structural modifications of the arterial wall include an increase in the number of elastin-smooth muscle cell connections and smaller fenestrations of the internal elastic lamina, possibility leading to redistribution of the mechanical load towards elastic materials. These modifications may give rise to mechanisms explaining why changes in arterial wall material accompanying wall hypertrophy in these animals are not associated with an increase in arterial stiffness. 3. In monogenic connective tissue diseases (Marfan, Williams and Ehlers-Danlos syndromes) and the corresponding animal models, precise characterization of the arterial phenotype makes it possible to determine the influence of abnormal, genetically determined, wall components on arterial stiffness. 4. Such studies have highlighted the role of extracellular matrix signalling in the vascular wall and have shown that elastin and collagen not only display elasticity or rigidity, but are also involved in the control of smooth muscle cell function. 5. These data provide strong evidence that arterial stiffness is affected by the amount and density of stiff wall material and the spatial organization of that material.
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PMID:Genetic influences on the arterial wall. 1849 35

We illustrate a 35 years old woman presenting with acute left hemiplegia three weeks after caesarean section. Cerebral MRI demonstrated acute right frontoparietal ischemic stroke, while angiographic investigations provided acute occlusion of the proximal right internal carotid artery due to a dissection and two additional dissections of the proximal and distal contralateral internal carotid artery. A skin biopsy revealed alterations like in some types of Ehlers-Danlos syndrome. Pregnancy, caesarean section, and possibly hormonal implicated connective tissue changes may have contributed to the dissections. Remarkably a second pregnancy with a close ultrasonographic vascular monitoring two years later succeeded upon caesarean section without complications, which gives an important input in the gestational guidance of risk patients.
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PMID:Bilateral internal carotid artery dissections related to pregnancy and childbirth. 1855 7


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