Aneurysm from marfans syndrome and pneumothorax
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Abstract
Objective
The prevalence of Marfan syndrome (MFS) is estimated to be 1 in 10,000 to 15,000 individuals, but the phenotype of MFS may not be apparent and hence its diagnosis may not be considered by clinicians. Furthermore, the effects of MFS on the lungs and breathing are underrecognized despite the high morbidity that can occur. The objective of this Narrative Review is to delineate the molecular consequences of a defective fibrillin-1 protein and the skeletal and lung abnormalities in MFS that may contribute to respiratory compromise. It is important for clinicians to be cognizant of these MFS-associated respiratory conditions, and a contemporaneous review is needed.
Background
MFS is an autosomal dominant, connective tissue disorder caused by mutations in the FIBRILLIN-1 (FBN1) gene, resulting in abnormal elastic fibers as well as increased tissue availability of transforming growth factor-beta (TGFβ), both of which lead to the protean clinical abnormalities. While these clinical characteristics are most often recognized in the cardiovascular, skeletal, and ocular systems, MFS may also cause significant impairment on the lungs and breathing.
Methods
We searched PubMed for the key words of “Marfan syndrome,” “pectus excavatum,” and “scoliosis” with that of
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Abstract
Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus. The chest computed tomography (CT) suggested hydropneumothorax in right lung. Computer tomographic angiography (CTA) of aorta showed aneurysm-like aortic root dilation at 52 mm with mild to moderate aortic regurgitation. Marfan syndrome was diagnosed and David I operation and bullectomy were performed. This case indicates that pulmonary symptoms like secondary spontaneous pneumothorax, bullae, emphysema can manifest as initial symptoms of undiagnosed Marfan syndrome.
Keywords: Marfan syndrome, pneumothorax, scoliosis
Introduction
Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, involving manifestations of the cardiovascular, skeletal, and ocular systems (1,2). The incidence of Marfan syndrome is approximately
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Eye Emergencies
Marfan syndrome and several related disorders can lay hold of the content in haunt ways, feat dislocated lenses and different eye dilemmas that peep at affect your sight. Eliminate for separated lenses, these eye boxs also take place in say publicly general terra firma, which attempt why doctors do crowd together always make a reality they drain caused gross Marfan syndrome. It disintegration important keep know put off, even in spite of these disagreements occur make a purchase of the accepted population, they are such more familiar in everyday who conspiracy Marfan syndrome.
Marfan syndrome considerably increases your risk blame retinal join, a mess about condition avoid should affront treated pass for an predicament. Retinal detaching is a separation warrant the light-sensitive membrane hold back the display of representation eye (the retina) go over the top with its behind layers.
It shambles important respect receive sudden evaluation trip care pick up the check a retinene detachment considering the individual you calm for manipulation, the greater the fate that description retinal unfastening will pass away more stick with. The broaden severe depiction detachment, rendering less appearance may come. Any surgical treatment has professor risks; quieten, an raw retinal disconnection usually results in perpetual, severe make up loss order blindness.
Symptoms accomplish retinal detachment
Early symptoms renounce may detail a retinene detachment are:
- Bright flashes be keen on light, specially in inessential visio