Ageing in Marfan syndrome

Hasan, Ali M.; Poloniecki, Jan; Child, Anne H.

doi:10.1111/j.1742-1241.2007.01407.x

Cited by 21 publications

(28 citation statements)

References 38 publications

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“…Furthermore, simvastatin can cause myalgia with signs of myopathy and increases the risk of polyneuropathy (46). However, results of previous studies suggest that cardiovascular disease and side effects of medication cannot fully explain the muscle weakness in Marfan patients (8,21). Likewise, results from our study suggest that Marfan syndrome is directly associated with moderate-to-mild myopathy and/or polyneuropathy, while the presence of dural ectasia with spinal meningeal cysts was related to lumbosacral radiculopathy.…”

Section: Discussioncontrasting

confidence: 60%

“…At least 90% of all Marfan patients fulfilling the clinical diagnostic criteria show a mutation in the fibrillin-1 (FBN1 ) gene on chromosome 15, with 27% of the mutations being spontaneous (1,2). With increasing life expectancy, the life-threatening cardiovascular involvement shifted to more chronic ocular, orthopedic, and, possibly, neuromuscular complications (4)(5)(6)(7)(8). In 1972, before the availability of elective open-heart surgery, Marfan patients tended to die from acute aortic dissection or rupture and had an average life expectancy of 32 (±16) years.…”

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confidence: 99%

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Neuromuscular features in Marfan syndrome

Voermans

Timmermans²,

Alfen

et al. 2009

Clinical Genetics

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Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized questionnaire, physical examination, nerve conduction study (NCS), needle electromyography (EMG), muscle ultrasound, laboratory investigation, and muscle biopsy. Existing neuroimages were screened for dural ectasia and spinal meningeal cysts. Twenty healthy controls with similar age distribution completed the questionnaire. The results showed that various neuromuscular symptoms occur more frequently in the patients. Four older patients reported muscle weakness, five patients had a mild-to-moderate reduction in vibration sense, and all older patients mentioned mild functional impairments. NCS showed axonal polyneuropathy in four and EMG myopathic and neurogenic changes in all patients. Increased echo intensity and atrophy on muscle ultrasound was found in more than half of the patients. Muscle biopsies obtained in two patients showed myopathic changes in the older, female patient. In conclusion, the majority of Marfan patients exhibited neuromuscular symptoms characterized as myopathy or polyneuropathy or both, and signs of lumbosacral radiculopathy, with symptoms being most pronounced in the older patients. Although meriting corroboration, these findings indicate a need to further the awareness of neuromuscular involvement in this population.

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Section: Discussioncontrasting

confidence: 60%

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confidence: 99%

Neuromuscular features in Marfan syndrome

Voermans

Timmermans²,

Alfen

et al. 2009

Clinical Genetics

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“…As life expectancy increases, age‐dependent diseases in the general population will affect MFS patients, and may change the causes of death in the MFS population accordingly (Hasan, Poloniecki, & Child, ). Although current treatment might enhance survival, our main hypothesis is that life expectancy in an unselected MFS population is still significantly reduced compared to the general population, for a large part due to aortic pathology, but also due to other cardiovascular complications.…”

Section: Introductionmentioning

confidence: 99%

Survival, causes of death, and cardiovascular events in patients with Marfan syndrome

Vanem

Geiran

Krohg‐Sørensen

et al. 2018

Molec Gen & Gen Med

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BackgroundTo explore survival, causes of death, and the prevalence of cardiovascular events in a Norwegian Marfan syndrome (MFS) cohort. MFS is a heritable connective tissue disorder associated with reduced life expectancy–primarily due to aortic pathology.MethodsA follow‐up study of 84 MFS adults, initially investigated in 2003–2004. In 2014–2015, 16 were deceased, 47 of 68 survivors consented to new clinical investigations. Analyses of events were performed for 47 survivors and 16 deceased at follow‐up. Standardized mortality ratios (SMR), using the mortality rate of the Norwegian population as reference, were calculated for all 84 and calculated for men and women separately. Causes of death and information on cardiovascular events were retrieved from death certificates and medical records.ResultsStandardized mortality ratios (95% confidence interval): for the whole cohort: 5.24 (3.00–8.51); for men: 8.20 (3.54–16.16); for women: 3.85 (1.66–7.58). Cardiovascular causes were found in 11 of 16 deceased, eight of these related to aortic pathology. Cancer was the cause of death in three patients. At follow‐up, 51% had new cardiovascular events; 59% had undergone aortic surgery. Men experienced aortic events at younger age than women. 32% of the survivors were not followed‐up as recommended.ConclusionLife expectancy is reduced in this MFS cohort compared to the Norwegian population. Cardiovascular complications develop throughout life, particularly aortic pathology, the major cause of death in MFS. Death and aortic pathology seem to occur earlier in men. There is a need to improve follow‐up according to guidelines.

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“…Early growth in adolescence may result in MFS patients being treated as older than their age (11,12). Chronic pain, fatigue, reduced physical capacity and endurance are often reported to be problems for adults with MFS (11)(12)(13)(14)(15). During and after pregnancy, there is an enlarged risk for aortic dilatation for women with MFS (8,13).…”

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confidence: 99%

Systematic review of the psychosocial aspects of living with Marfan syndrome

et al. 2014

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The purpose of this study was to explore the literature on the psychosocial aspects of Marfan syndrome (MFS), to critically appraise and to synthesize relevant literature. A mixed-method systematic review was performed by searching the published literature databases using available medical, psychological, pedagogical and social databases and other sources. All studies that addressed psychosocial aspects of MFS, published in peer-reviewed journals were assessed. Of 81 search results, 15 articles (four articles based on same study population) satisfied the eligibility criteria. All studies were cross-sectional; no intervention or randomized controlled trial (RCT) studies were found. Most studies were of small sample sizes, had low response rate or participants without a verified diagnosis. Despite these limitations, all studies described, that MFS has a significant impact on the psychosocial aspects of people's lives: Decreased quality of life; challenges in education, work and family life, depression and anxiety. Some studies indicated that the subjective perception of discomfort did not necessarily match the medical severity of a disease. The research of the psychosocial aspects of MFS is limited in size and quality. More research is needed on the psychosocial aspects of MFS in samples with a verified diagnosis to develop evidence-based knowledge and appropriate guidelines.

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Ageing in Marfan syndrome

Cited by 21 publications

References 38 publications

Neuromuscular features in Marfan syndrome

Neuromuscular features in Marfan syndrome

Survival, causes of death, and cardiovascular events in patients with Marfan syndrome

Systematic review of the psychosocial aspects of living with Marfan syndrome

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