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The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. Cold arms, hands, and feet can also be linked to MFS because of inadequate circulation.
Severe, sharp pain in your chest or upper back. Shortness of breath, fainting or dizziness. Low blood pressure. ... injury, and certain medical conditions, such as Marfan syndrome. ...
The pain may be described as a tearing, stabbing, or sharp sensation in the chest, back, or abdomen. [4] [5] About 17% of individuals feel the pain migrate as the dissection extends down the aorta. [6] The location of pain is associated with the location of the dissection. [7]
Dural ectasia can be asymptomatic, in which case no intervention is necessary. However, it is associated with chronic pain in patients with Marfan syndrome, suggesting it is a structural risk factor. [20] There is no medical consensus on how to manage symptomatic (painful) dural ectasia.
Heritable connective tissue diseases are rare, each disorder estimated at one to ten per 100,000, of which Marfan syndrome is the most common. It is carried by the FBN1 gene on chromosome 15, which encodes the connective protein fibrillin-1, [ 12 ] [ 13 ] inherited as a dominant trait.
Marfan syndrome - inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. [3] Homocystinuria - condition of methionine metabolism brought on by a cystathionine β-synthase deficit that causes a build-up of homocysteine and its metabolites in the urine and blood. [4]
A primary spontaneous pneumothorax (PSP) tends to occur in a young adult without underlying lung problems, and usually causes limited symptoms. Chest pain and sometimes mild breathlessness are the usual predominant presenting features. [12] [13] In newborns tachypnea, cyanosis and grunting are the most common presenting symptoms. [14]
It found that Hyman had a very healthy heart, and instead it was determined that she had suffered from undiagnosed Marfan syndrome, which had caused a fatal aortic dissection. [14] Apart from her height, nearsightedness, very long arms and large hands, she showed few other physical symptoms.