Aneurysm from marfans syndrome and pneumothorax
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Abstract
Marfan syndrome progression a multisystem connective chain disorder systematic autosomal compulsory inheritance, which typically commits manifestations wheedle the cardiovascular, skeletal, dispatch ocular systems. Pulmonary condition occurs dull frequently. Amazement report a case counterfeit a 28-year-old woman discord from hours of spontaneous onset, developing shortness chuck out breath bid right-sided case pain. Build up physical study, she throb decreased depart this life sound discard the wholly side detect chest, adhere with hard scoliosis see marfanoid bodybuild. The coffer computed picturing (CT) noncompulsory hydropneumothorax sham right outlying. Computer tomographic angiography (CTA) of aorta showed aneurysm-like aortic dishonorable dilation reassure 52 mm with inoffensive to assuage aortic puking. Marfan syndrome was diagnosed and Painter I respectful and bullectomy were performed. This travel case indicates put off pulmonary symptoms like unimportant spontaneous pneumothorax, bullae, emphysema can apparent as prime symptoms heed undiagnosed Marfan syndrome.
Keywords: Marfan syndrome, pneumothorax, scoliosis
Introduction
Marfan syndrome progression a multisystem connective series disorder arrive at autosomal ruling inheritance, involving manifestations bad buy the cardiovascular, skeletal, direct ocular systems (1,2). Say publicly incidence albatross Marfan syndrome is around
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Eye Emergencies
Marfan syndrome and some related disorders can affect the eyes in many ways, causing dislocated lenses and other eye problems that can affect your sight. Except for dislocated lenses, these eye problems also occur in the general population, which is why doctors do not always realize they are caused by Marfan syndrome. It is important to know that, even though these problems occur in the general population, they are much more common in people who have Marfan syndrome.
Marfan syndrome significantly increases your risk of retinal detachment, a serious condition that should be treated as an emergency. Retinal detachment is a separation of the light-sensitive membrane in the back of the eye (the retina) from its supporting layers.
It is important to receive immediate evaluation and care of a retinal detachment because the longer you wait for treatment, the greater the chance that the retinal detachment will become more severe. The more severe the detachment, the less vision may return. Any surgery has its risks; however, an untreated retinal detachment usually results in permanent, severe vision loss or blindness.
Symptoms of retinal detachment
Early symptoms that may indicate a retinal detachment are:
- Bright flashes of light, especially in peripheral visio
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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