Life expectancy in British Marfan syndrome populations

Gray, Jonathon; Bridges, A. B.; West, Robert; McLeish, Lorna; Stuart, Graham; Dean, John; Porteous, Mary; Boxer, M.; Davies, Steve

doi:10.1111/j.1399-0004.1998.tb03714.x

Cited by 71 publications

(44 citation statements)

References 9 publications

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“…Family history may be helpful, but around 27% of cases arise from new mutation. 1 In 1991, fibrillin-1 gene mutation on chromosome 15 was identified as a cause of Marfan syndrome, 2 but molecular testing is not as diagnostically useful as was originally hoped. Fibrillin-1 mutation causes some Marfan-like disorders with a better prognosis (eg MASS phenotype, MIM 604308, mitral valve prolapse, mild non-progressive aortic dilatation, skin and skeletal features, or isolated ectopia lentis, MIM 129600), 3 and between 9 and 34% of bona fide Marfan patients have no identifiable fibrillin-1 mutations using current testing techniques.…”

Section: In Briefmentioning

confidence: 99%

“…The minimal birth incidence is around 1 in 9800. 1 Progressive aortic dilatation, usually maximal at the sinus of Valsalva, associated with aortic valve incompetence leads to aortic dissection or rupture and is the principal cause of mortality, but mitral valve prolapse with incompetence may be significant, and lens dislocation, myopia and arthritis associated with chronic joint laxity can cause substantial morbidity. The diagnosis is…”

Section: Introductionmentioning

confidence: 99%

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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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Section: In Briefmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Marfan syndrome: clinical diagnosis and management

2007

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“…With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. 51,52 PULMONARY AIRWAY…”

Section: Figurementioning

confidence: 99%

Health Supervision for Children With Marfan Syndrome

Tinkle¹,

Saal²,

Saul³

et al. 2013

Pediatrics

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“…orpha.net/) and a mean survival of 45Ϯ17 years. 30 The clinical signs in MFS are mainly musculoskeletal, ocular, cardiac with aortic and mitral valve anomalies, and aortic aneurysms and dissections. 31 In a retrospective analysis of neurovascular complications in 513 MFS patients, no CAD was found.…”

Section: Marfan Syndromementioning

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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Life expectancy in British Marfan syndrome populations

Cited by 71 publications

References 9 publications

Marfan syndrome: clinical diagnosis and management

Marfan syndrome: clinical diagnosis and management

Health Supervision for Children With Marfan Syndrome

The Genetics of Cervical Artery Dissection

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