scholarly journals Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections

2021 ◽  
Vol 7 (6) ◽  
pp. e625
Author(s):  
Dargham Hussein ◽  
Christian Olsson ◽  
Kristina Lagerstedt-Robinson ◽  
Tiago Moreira
Keyword(s):  
Genetic Variant ◽  
Novel Mutation ◽  
Composite Graft ◽  
Joint Hypermobility ◽  
Carotid Artery Dissection ◽  
Artery Dissection ◽  
Connective Tissue Disorders ◽  
Stroke Patients ◽  
Musculoskeletal Examination

ObjectivesLoeys-Dietz syndrome (LDS) is a rare genetic cause of stroke associated with connective tissue disorders but is not well known among stroke physicians.1 The main objectives of this case report are to increase awareness of this condition and to improve stroke prevention at follow-up visits.MethodsA patient with aortic and carotid artery dissection who had undergone 2 major aortic surgeries with mechanical composite graft and treated with full-dose anticoagulation was reevaluated by neurologists due to retinal hypoperfusion symptoms. After musculoskeletal examination, cervical ultrasonography, and computerized tomography angiography, he was referred for whole-genome sequencing.ResultsWe found joint hypermobility, skin hyperelasticity, bifid uvula, and combined cervical artery dissections that caused intermittently decreased blood flow in the left ophthalmic artery and an acute asymptomatic embolic stroke. A novel pathogenic variant of LDS type 5 consisting of a heterogeneous nonsense variant c.1044C>A, p.(Cys384*) was found in the TGF-β 3 (TGFB3) gene. Consequently, anticoagulation was intensified, and at 1-year follow-up, the patient's symptoms improved.DiscussionThis novel genetic variant coupled to the patient's phenotype contributes to the knowledge of genetic causes of stroke. Patients with multiple arterial dissections and musculoskeletal features should be offered genetic testing and be carefully evaluated to avoid further cerebrovascular ischemic lesions.

scholarly journals Extracranial Carotid and Vertebral Artery Dissection: A Review

2008 ◽  
Vol 35 (2) ◽  
pp. 146-152 ◽  
Author(s):  
Gary John Redekop
Keyword(s):  
Vertebral Artery ◽  
Cochrane Review ◽  
Vertebral Artery Dissection ◽  
Antiplatelet Agents ◽  
Carotid Artery Dissection ◽  
Annual Incidence ◽  
Artery Dissection ◽  
Blunt Injury ◽  
Injury Mechanisms

Dissection of the extracranial carotid and vertebral arteries is increasingly recognized as a cause of transient ischemic attacks and stroke. The annual incidence of spontaneous carotid artery dissection is 2.5 to 3 per 100,000, while the annual incidence of spontaneous vertebral artery dissection is 1 to 1.5 per 100,000. Traumatic dissection occurs in approximately 1% of all patients with blunt injury mechanisms, and is frequently initially unrecognized. Overall, dissections are estimated to account for only 2% of all ischemic strokes, but they are an important factor in the young, and account for approximately 20% of strokes in patients less than 45 years of age. Arterial dissection can cause ischemic stroke either by thromboemboli forming at the site of injury or as a result of hemodynamic insufficiency due to severe stenosis or occlusion. Available evidence strongly favors embolism as the most common cause. Both anticoagulation and antiplatelet agents have been advocated as treatment methods, but there is limited evidence on which to base these recommendations. A Cochrane review on the topic of antithrombotic drugs for carotid dissection did not identify any randomized trials, and did not find that anticoagulants were superior to antiplatelet agents for the primary outcomes of death and disability. Healing of arterial dissections occurs within three to six months, with resolution of stenosis seen in 90%, and recanalization of occlusions in as many as 50%. Dissecting aneurysms resolve on follow-up imaging in 5- 40%, decrease in size in 15-30%, and remain unchanged in 50-65%. Resolution is more common in vertebral dissections than in carotid dissections. Aneurysm enlargement occurs rarely. The uncommon patient presenting with acute hemodynamic insufficiency should be managed with measures to increase cerebral blood flow, and in this setting emergency stent placement to restore cerebral perfusion may be considered, provided that irreversible infarction has not already occurred.

scholarly journals Ischaemic stroke caused by spontaneous unilateral carotid artery dissection in patient with connective tissue disorder

2021 ◽  
Vol 21 (1) ◽  
pp. 41-46
Author(s):  
Weronika Pużyńska ◽  
◽  
Anna Mirończuk ◽  
Katarzyna Kapica-Topczewska ◽  
Adam Łukasiewicz ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Connective Tissue ◽  
Ischaemic Stroke ◽  
Young Patients ◽  
Carotid Artery Dissection ◽  
Artery Dissection ◽  
Left Internal Carotid Artery ◽  
Cervical Artery Dissection ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome

Background: Spontaneous cervical artery dissection is a major cause of ischaemic stroke in young patients. It is supposed that genetic variants associated with connective tissue disorders often lead to neurovascular complications, the management of which remains a challenge. Case presentation: A 30-year-old female was admitted to the Department of Neurology with an episode of visual disturbances, speech problems, and concomitant headache. Computed tomography angiography revealed left internal carotid artery dissection. Magnetic resonance of the brain showed cortical and subcortical acute ischaemic lesions in the left cerebral hemisphere. The patient was diagnosed with vascular Ehlers–Danlos syndrome based on the clinical course of the disease. Conservative treatment was administered with full neurological recovery. Conclusion: It is very important for clinicians to consider the coexistence of genetically determined connective tissue disorders in young patients who develop arterial dissections.

Spontaneous Dissecting Pseudoaneurysm of the Extracranial Internal Carotid Artery: Endovascular Treatment with a Palmaz Stent

1998 ◽  
Vol 4 (1_suppl) ◽  
pp. 101-104 ◽  
Author(s):  
J. Deguchi ◽  
S. Nagasawa ◽  
H. Tanaka ◽  
S. Suzuki ◽  
Y. Hirota ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Conservative Therapy ◽  
Internal Carotid ◽  
Neurological Complications ◽  
Carotid Artery Dissection ◽  
Artery Dissection ◽  
Spontaneous Dissection ◽  
Cervical Internal Carotid Artery

This case illustrates the usefulness of an endovascular stent to treat a pseudoaneurysm of the cervical internal carotid artery. A 46-year-old male patient presented with a spontaneous dissection of the cervical internal carotid artery. After failing conservative therapy, he was treated by endovascular placement of a Palmaz stent at level of the pseudoaneurysm and dissection. Immediate obliteration of pseudoaneurysm was achieved, and patency of the internal carotid artery was maintained. The patient sustained no neurological complications and the stenosis of treated carotid artery did not occur during the 6-month follow-up period. For internal carotid artery dissection, stent placement seems to be a reasonable therapeutic alternative to direct surgery.

Early Multicenter Experience With the Neuroform Atlas Stent: Feasibility, Safety, and Efficacy

Neurosurgery ◽  
2020 ◽  
Vol 87 (3) ◽  
pp. E321-E335 ◽  
Author(s):  
Ahmad Sweid ◽  
Nabeel Herial ◽  
Kalyan Sajja ◽  
Nohra Chalouhi ◽  
Lohit Velagapudi ◽  
...  
Keyword(s):  
Carotid Artery Dissection ◽  
Artery Dissection ◽  
Intracranial Stenting ◽  
Complex Aneurysms ◽  
Major Complications ◽  
Number Of Patients ◽  
Acute Rupture ◽  
Favorable Clinical Outcome ◽  
Retrospective Multicenter Study

Abstract BACKGROUND The Neuroform Atlas stent™ (by Stryker, Fremont, California) represents the most recent widely available upgrade to intracranial stenting, providing a laser cut open cell stent with a diameter of 3.0 to 4.5 mm that is delivered through an 0.017-inch microcatheter. OBJECTIVE To report our initial multicenter experience of the safety, efficacy, and feasibility of the Atlas stent used for treating aneurysms, as well as one case of intracranial stenosis and one carotid artery dissection as well as other pathologies. METHODS A retrospective multicenter study of subjects treated with Atlas stent during the period 2018 to 2019. RESULTS The total number of patients included in our analysis was 71 patients. The stent was utilized to treat 69 aneurysm cases. Of the aneurysms, 36% presented with acute rupture and 56% of the ruptured aneurysms were high grade. Mean aneurysm dimension was 7 mm with an average neck width of 4.1 mm. Around 30% had received prior treatment. Telescoping or Y-stent was used in 16% of cases. We did not observe any symptomatic major complications in our series. Asymptomatic major complications were seen in 7 patients (10.1%); technical complications occurred in 4.3%. Immediate modified Raymond-Roy-occlusion-outcome class I/II was observed in 87%, and this increased to 97.7% at latest follow-up, which was at 4 mo; 91.8% of patients achieved favorable clinical outcome, and mortality rate was 1.4%. CONCLUSION Our series demonstrates the safety, feasibility, and efficacy of the Atlas stent. The low complication rate and the high obliteration rate managing complex aneurysms, even in an acute ruptured setting, are notable.

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