Neurovascular Complications of Marfan Syndrome

Wityk, Robert J.; Zanferrari, Carla; Oppenheimer, Stephen

doi:10.1161/hs0302.103816

Cited by 87 publications

(48 citation statements)

References 36 publications

(34 reference statements)

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“…31 In a retrospective analysis of neurovascular complications in 513 MFS patients, no CAD was found. 32 Similarly, no case of CAD was reported in a recent series of 1013 patients with MFS, although central nervous system complications are not described in detail. 33 Large series of consecutive patients with CAD report very low frequencies of MFS (0.6% to 0.9%) 3,26,29 without details on how the diagnosis of MFS was confirmed.…”

Section: Marfan Syndromementioning

confidence: 97%

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: Marfan Syndromementioning

confidence: 97%

The Genetics of Cervical Artery Dissection

Debette

Markus

2009

Stroke

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“…65 Anterior sacral meningocele has been described rarely as a complication of Marfan syndrome, and may lead to diagnostic confusion when presenting as a pelvic or abdominal mass. 66 Cerebral haemorrhage and other neurovascular disorders are uncommon in Marfan patients, 67 but intracranial aneurysms may be more common in the Loeys -Dietz syndrome. 13 …”

Section: Central Nervous Systemmentioning

confidence: 99%

Marfan syndrome: clinical diagnosis and management

2007

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In association withMarfan syndrome: clinical diagnosis and management Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of some features is age dependent, so the nosology must be used with caution in children. Molecular testing may be helpful in this context. The nosology cannot be used in families with isolated aortic dissection, or with related conditions such as Loeys -Dietz syndrome, although it may help identify families for further diagnostic evaluation because they do not fulfill the nosology, despite a history of aneurysm. Prophylactic medical (eg b-blockade) and surgical intervention is important in reducing the cardiovascular complications of Marfan syndrome. Musculoskeletal symptoms are common, although the pathophysiology is less clear -for example, the correlation between dural ectasia and back pain is uncertain. Symptoms in other systems require specialist review such as ophthalmology assessment of refractive errors and ectopia lentis. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, particularly if the aortic root exceeds 4 cm at the start of pregnancy. High-intensity static exercise should be discouraged although low-moderate intensity dynamic exercise may be beneficial. The diagnosis and management of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability.

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“…In a retrospective hospital-based study of patients with MFS, seen in an 8-year period, the incidence of neurovascular disorders was 3.5%; ischemic events were 83%; hemorrhagic events 17%. Prosthetic heart valves and atrial fibrillation embolism were the most common cause of neurovascular disorders in this study (Wityk et al, 2002). Wityk et al, noting that most strokes are cardioembolic, cast doubt on the association between spontaneous, isolated internal carotid artery dissection and MFS.…”

Section: Marfan Syndromementioning

confidence: 50%

Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach

Ballabio

Bersano

Bresolin

et al. 2007

J Cereb Blood Flow Metab

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The identification of stroke cases caused by monogenic disorders is important both for therapeutic decisions and genetic counselling, although they represent less than 1% of all stroke patients. The purpose of this review is to summarize genetic, pathological, and clinical features of single-gene disorders related to ischemic stroke. The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal-recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy, hereditary endotheliopathy with retinopathy, nephropathy, and stroke, Fabry disease, pseudoxanthoma elasticum, Neurofibromatosis type 1, familial MoyaMoya disease, Ehlers-Danlos syndrome type IV, Marfan syndrome. For each monogenic disorder, mode of inheritance, pathophysiological aspects, clinical phenotype, and diagnostic tools are carefully described. Furthermore, the classification of monogenetic disorders is presented according to stroke mechanisms, which include small vessel diseases, large artery diseases, and arterial dissections. This review could be useful to identify specific diagnostic pathways for patients with a suspicion of monogenic disease.

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Neurovascular Complications of Marfan Syndrome

Cited by 87 publications

References 36 publications

The Genetics of Cervical Artery Dissection

The Genetics of Cervical Artery Dissection

Marfan syndrome: clinical diagnosis and management

Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach

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