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Marfan Syndrome - Coggle Diagram
Marfan Syndrome
What is it
Autosomal dominant conditions that occcurs in 1 to 10,00-20,000 individuals
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Caused by mutations in the FBN1 gene, which mostly alters physical features
Symptoms
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The eye is greatly affected with symptoms including: nearsightedness, lens displacement, increased risk for retinal detachment, glaucoma, and cataracts
Skeleton and connective tissue symptoms: bone overgrowth, loose joints, long thin limbs, and scoliosis
Most endangering symptoms are cardiovascular malfunctions: dilated aorta, mitral valve prolapse, enlargement of pulmonary artery, and high risk for aortic tear and rupture
Diagnosis
Diagnosis is based on family history and the symptoms present in cardiovascular, ocular, and skeletal systems
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If FBN1 is not mutated, other conditions that present similar symptoms could be present instead of marfan syndrome
Treatment
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Treatment plans can include all or some ofthese specialists: geneticist, cardiologist, ophthalmologist, orthopedist and cardiothoracic surgeon
Skeletal problems may require surgery, orthotics, or other methods of treatment
Heart problems can be treated with medication, constant monitoring or surgery in some cases
As part of treatment, those with marfan syndrome cannot compete in competitive sports or exercise, besides aerobic ones. They also have to avoid caffeine and decongestant medications
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