Pulmonary disease in patients with Marfan syndrome.

Wood, J. V.; Bellamy, D.; Child, Anne H.; Citron, K. M.

doi:10.1136/thx.39.10.780

Cited by 166 publications

(93 citation statements)

References 9 publications

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“…53 Such bullae (or blebs) can predispose to spontaneous pneumothorax. Symptoms of pneumothorax include sudden onset of chest pain, dyspnea, and/or cyanosis.…”

Section: Pulmonary Issues Encountered Inmentioning

confidence: 99%

Health Supervision for Children With Marfan Syndrome

Tinkle¹,

Saal²,

Saul³

et al. 2013

Pediatrics

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“…53 Such bullae (or blebs) can predispose to spontaneous pneumothorax. Symptoms of pneumothorax include sudden onset of chest pain, dyspnea, and/or cyanosis.…”

Section: Pulmonary Issues Encountered Inmentioning

confidence: 99%

Health Supervision for Children With Marfan Syndrome

Tinkle¹,

Saal²,

Saul³

et al. 2013

Pediatrics

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“…60 Spontaneous pneumothorax occurs in 4 -11% of patients and may be associated with apical bullae. 61,62 Recurrence is common, and there should be a low threshold for surgical intervention. Mechanical ventilation can exacerbate respiratory difficulties in Marfan neonates because of susceptibility to pneumothorax, bullae and emphysema.…”

Section: Respiratory 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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“…An increased occurrence of pneumothorax especially in males has been reported with incidence up to 40% (31). Pneumothorax is more likely to recur, and studies have shown pulmonary bullae in patients especially in those who have had pneumothorax.…”

Section: Pneumothoraxmentioning

confidence: 99%

“…Four cases of upper lobe fibrosis are reported amongst the 100 cases described by Wood et al (31) and one report of bilateral honeycomb lung (36) exists.…”

Section: Interstitial Lung Diseasementioning

confidence: 99%

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Non-cardiac manifestations of Marfan syndrome

Child

2017

Ann. Cardiothorac. Surg.

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Because of the widespread distribution of fibrillin 1 in the body, Marfan syndrome (MFS) affects virtually every system. The expression of this single dominantly inherited gene is variable within a family, and between families. There is some genotype-phenotype correlation which is helpful in guiding long-term prognosis, and management. In general gene mutations have been reported in clusters, with those having mainly ocular manifestations occurring in exons 1 to 15 of this 65-exon gene; those causing cardiac problems often involving cysteine replacement in a calcium binding EGF-like sequence; the most severe mutations occurring in exons 25-32, causing neonatal MFS diagnosed at birth, and severe enough to cause death frequently before the age of 2. Other correlations will certainly be found in future. This condition is progressive, and the manifestations unfold according to age. For example, if the lens is going to dislocate this usually occurs by age 10; scoliosis usually presents itself between the ages of 8 and 15; height should be monitored carefully between the onset of puberty and cessation of growth approximately age 17 or 18. Holistic care should be offered by one doctor who oversees the patient's welfare. This should be a paediatrician, paediatric cardiologist, or general practitioner in the case of an affected child. Thereafter, the physician in charge of the most seriously affected system should be aware that other systems need to be managed through a referral network.

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Pulmonary disease in patients with Marfan syndrome.

Cited by 166 publications

References 9 publications

Health Supervision for Children With Marfan Syndrome

Health Supervision for Children With Marfan Syndrome

Marfan syndrome: clinical diagnosis and management

Non-cardiac manifestations of Marfan syndrome

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