Fragile lung in the Marfan syndrome.

Turner, James A.; Stanley, N. N.

doi:10.1136/thx.31.6.771

Cited by 39 publications

(19 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…About 10% of patents with Marfan's syndrome have pulmonary involvement beside thorax deformity [36]. Pulmonary malformation, emphysema, and honeycombing of the lungs complicated by spontaneous pneumothorax have been reported [2,3,35,38,39]. A structural weakening of pulmonary tissue, especially of collagen is suspected [38].…”

Section: Discussionmentioning

confidence: 99%

Case report and study of collagen metabolism in marfan's syndrome

et al. 1981

View full text Add to dashboard Cite

The case report on a 33 year old woman with prominent features of Marfan's syndrome is presented. Characteristic signs were seen in the bones, the eyes, the cardiovascular system, and the lungs. Due to regurgitation of both the aortic and mitral valves and an aneurysm of the ascending aorta a double valve replacement was made, including a prosthesis of the aorta. The problems of early diagnosis and therapy of the life-threatening cardiovascular complications are discussed. Tissue specimens from the aorta were analysed histochemically and biochemically. Histology showed a typical necrosis of the media with cyst formation. Biochemical analysis by in vitro labeling of collagen in tissue explants and by electron microscopical evaluation showed proportions of type I and type III collagen which were significantly different from controls. In both the media and the adventitia the amount of type I collagen was drastically reduced as shown by quantitation of collagen and procollagen. Fibroblasts derived from the skin of the patient showed a normal content of type I and type III collagen. It is conceivable that the reduced content of type I collagen in the aortic wall is responsible for the weakness of the vessel wall causing formation of aneurysm and its sequelae.

show abstract

Section: Discussionmentioning

confidence: 99%

Case report and study of collagen metabolism in marfan's syndrome

et al. 1981

View full text Add to dashboard Cite

show abstract

“…Pneumothorax is more likely to recur, and studies have shown pulmonary bullae in patients especially in those who have had pneumothorax. Emphysema has been reported (32). The elastic fibres in lung biopsy specimens show degenerative changes, suggesting this as the likely explanation for lung function abnormalities.…”

Section: Pneumothoraxmentioning

confidence: 99%

Non-cardiac manifestations of Marfan syndrome

Child

2017

Ann. Cardiothorac. Surg.

View full text Add to dashboard Cite

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.

show abstract

“…22 Use of a cell saver is recommended to decrease blood volume loss. Both wound healing and soft-tissue stability may be affected by the defect in the connective tissues inherent in Marfan syndrome, 28 so soft tissue repair should be meticulous.…”

Section: Marfan Syndromementioning

confidence: 99%

Spine Deformities in Rare Congenital Syndromes

Campbell

2009

Spine

View full text Add to dashboard Cite

For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.

show abstract

Fragile lung in the Marfan syndrome.

Cited by 39 publications

References 18 publications

Case report and study of collagen metabolism in marfan's syndrome

Case report and study of collagen metabolism in marfan's syndrome

Non-cardiac manifestations of Marfan syndrome

Spine Deformities in Rare Congenital Syndromes

Contact Info

Product

Resources

About