Pulmonary Function, Working Capacity and Strength in Young Adults With Marfan Syndrome

Giske, Liv; Stanghelle, Johan Kvalvik; Rand-Hendrikssen, Svend; Strøm, Vegard; Wilhelmsen, Jan-Erik; Røe, Cecilie

doi:10.1080/16501970306095

Cited by 39 publications

(64 citation statements)

References 25 publications

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“…Analysis of the increase in blood lactate revealed no statistically significant differences between the Marfan syndrome and control groups. However, the levels found may suggest that the participants had reached higher than expected degrees of exertion, inferring a greater cardiovascular load (15). This increase in lactate also corroborates the fact that the effort made was effective and caused metabolic alterations.…”

Section: Discussionsupporting

confidence: 59%

P4.53 Immediate Effects of Submaximal Effort on Pulse Wave Velocity in Patients With Marfan Syndrome

Peres

Bernardelli

Mendes

et al. 2012

ARTRES

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Section: Discussionsupporting

confidence: 59%

P4.53 Immediate Effects of Submaximal Effort on Pulse Wave Velocity in Patients With Marfan Syndrome

Peres

Bernardelli

Mendes

et al. 2012

ARTRES

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“…(Congenital) joint contractures, particularly of the elbow, occur with moderate frequency [16]. Marfan patients frequently report muscle fatigue, and to a lesser extent muscle weakness, muscle hypoplasia, myalgia, and cramps [4,15,22,25,45,49,66]. Fibrillin-1 is relatively abundantly expressed in the skeletal muscle endomysium and perimysium, suggesting a causal link between muscle symptoms and the FBN1 abnormality [49,66].…”

Section: Ehlers-danlos Syndrome (Eds)mentioning

confidence: 96%

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

et al. 2009

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Congenital and adult-onset inherited myopathies represent a wide spectrum of syndromes. Classification is based upon clinical features and biochemical and genetic defects. Joint hypermobility is one of the distinctive clinical features that has often been underrecognized so far. We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital muscular dystrophy, Bethlem myopathy, congenital muscular dystrophy with joint hyperlaxity, multi-minicore disease, central core disease, and limb girdle muscular dystrophy 2E with joint hyperlaxity and contractures. We shortly discuss a second group of disorders characterised by both muscular features and joint hypermobility: the inherited disorders of connective tissue Ehlers-Danlos syndrome and Marfan syndrome. Furthermore, we will briefly discuss the extent and pattern of joint hypermobility in these myopathies and connective tissue disorders and propose two grading scales commonly used to score the severity of joint hypermobility. We will conclude focusing on the various molecules involved in these disorders and on their role and interactions in muscle and tendon, with a view to further elucidate the pathophysiology of combined hypermobility and myopathy. Hopefully, this review will contribute to enhanced recognition of joint hypermobility and thus be of aid in differential diagnosis.

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“…The low VT score may reflect the frequently reported complaint of fatigue and reduced physical endurance among persons with MFS. 7 On the physical subscales, persons with MFS reported more BP and had worse scores for role physical compared with groups with uveitis, CF, and HCM but better scores than the BS group. In our population, 53% of the persons fulfilling the Ghent criteria had a Beighton score Ն4.…”

Section: Comparison Groupsmentioning

confidence: 99%

“…6 Moreover, persons with MFS often report musculoskeletal pain, fatigue, and reduced physical endurance. 7,8 In the clinic, persons with MFS usually report few, if any, physical limitations deriving from their cardiovascular system. On the other hand, physicians often advise abstinence from strenuous exercise and prescribe beta-blockers to reduce the aortic dP/dt, heart rate, blood pressure, and left ventricular afterload, with the intention to delay aortic dilatation and lower the risk of aortic dissection.…”

mentioning

confidence: 99%

Health-related quality of life in Marfan syndrome: A cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis

Rand‐Hendriksen

Johansen

Semb

et al. 2010

Genetics in Medicine

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M arfan syndrome (MFS) is an autosomal dominant connective tissue disorder, with variable pathologic features and symptoms from different organ systems. MFS is diagnosed on the basis of the Ghent criteria, 1 defining "involved organ systems" and "major criteria fulfilled." To be given the diagnosis, a person has to fulfill a major criterion in two different organ systems and have a third organ system involved. Approximately 30% of the cases are the first in their family to have MFS, interpreted as caused by new mutations.The impact of MFS on the individual patient may vary considerably both between families and within a family. As aortic disease may result in early death, some patients will have to cope with an impending life-threatening condition. Lens dislocation can give reduced visual acuity, and lens dislocation increases the risk for retinal detachment that can result in blindness. The consequences of dural ectasia are still unclear 2 ; orthostatic headache due to cerebrospinal hypotension has been found 3,4 ; problems with spinal and epidural anesthesia have been reported. 5 Skeletal abnormalities may include a long, slender body shape, chest deformities, scoliosis, and joint hypermobility and may result in a peculiar appearance that invites unwanted attention. Children with MFS often look older than their chronological age and are often treated in accordance with their appearance, rather than their actual age. Individuals with MFS have been bullied and stigmatized at school, in the local environment, and in their occupational life. 6 Moreover, persons with MFS often report musculoskeletal pain, fatigue, and reduced physical endurance. 7,8 In the clinic, persons with MFS usually report few, if any, physical limitations deriving from their cardiovascular system. On the other hand, physicians often advise abstinence from strenuous exercise and prescribe beta-blockers to reduce the aortic dP/dt, heart rate, blood pressure, and left ventricular afterload, with the intention to delay aortic dilatation and lower the risk of aortic dissection. Some patients undergo prophylactic elective graft operations for enlarged aortas. Through such measures, the median life expectancy of persons with MFS has been prolonged considerably. 9 To reduce the risk of aortic dissection, lens dislocation, and retinal detachment, the patients are advised not to participate in contact sports and to wear glasses during sports with small balls. It is our clinical experience that the advised restrictions have often resulted in passivity; a sedentary life with an increasing body size.Given the broad range of symptoms and characteristics among individuals with MFS, as mentioned earlier, one would expect a reduced health-related quality of life (HRQOL). Judging from the MFS literature, where the main focus is on aortic pathology, the severity of aortic disease could potentially be the most important predictor for the degree of reduction. There are, however, few studies of HRQOL in the literature on MFS. In a study of 174 adults with MFS, Pe...

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Pulmonary Function, Working Capacity and Strength in Young Adults With Marfan Syndrome

Cited by 39 publications

References 25 publications

P4.53 Immediate Effects of Submaximal Effort on Pulse Wave Velocity in Patients With Marfan Syndrome

P4.53 Immediate Effects of Submaximal Effort on Pulse Wave Velocity in Patients With Marfan Syndrome

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

Health-related quality of life in Marfan syndrome: A cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis

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