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  • 759.82 Marfan syndrome

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  • Q87.4 Marfan’s syndrome
  • Q87.40 Marfan’s syndrome, unspecified
  • Q87.41 Marfan’s syndrome with cardiovascular manifestations
  • Q87.410 Marfan’s syndrome with aortic dilation
  • Q87.418 Marfan’s syndrome with other cardiovascular manifestations
  • Q87.42 Marfan’s syndrome with ocular manifestations
  • Q87.43 Marfan’s syndrome with skeletal manifestation

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Description

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  • Connective-tissue disorder characterized by long fingers and toes (arachnodactyly)2,3
  • Dominant inherited trait
  • Defect in fibrillin-1 gene
  • Excessive growth of long bones
  • Individuals are tall with elongated extremities
  • Elongated face
  • Pectus Carinatum (pigeon chest)

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Essentials of Diagnosis

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  • Diagnostic criteria defined in the Ghent nosology

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General Considerations

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  • Associated cardiac disorders
    • Heart failure
    • Mitral valve prolapse
    • Aortic dissection and disruption, which may cause sudden death

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Demographics

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  • Inherited as an autosomal trait
  • Rare cases of spontaneous gene defect
  • Incidence: 1 in 5,000 people2
  • Men and women equally affected

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Signs and Symptoms

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  • Vision changes with possible retinal dysfunction
    • Detached retina
    • Cataracts
  • Joint hypermobility
  • Spiderlike fingers (arachnodactyly)3
  • Wing span exceeds body height
  • Morning stiffness
  • Joint instability
  • Joint deformity
  • Pes planus (Flat feet)
  • Pectus excavatum
  • Scoliosis
  • Learning disability
  • Connective-tissue disorder
  • High arch palate
  • Collapsed lung
  • Arrhythmia
  • Sleep apnea
  • Secondary problems
    • Aneurysm
    • Scoliosis

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Functional Implications

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  • Limited mobility
  • Aerobic endurance limitation
  • Visual deficiency
  • Decreased activity participation

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Possible Contributing Causes

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  • Gene mutation

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Differential Diagnosis

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  • Osteoarthritis
  • Rheumatoid arthritis
  • Ehlers-Danlos syndrome
  • Stickler syndrome
  • Loeys-Dietz syndrome
    • Mutation in the transforming growth factor B-receptor
  • Aortic aneurysm
  • Marfanoid habitus
  • Systemic lupus erythematosus
  • Fibromyalgia syndrome
  • Scleroderma
  • Homocystinuria
  • Lujan syndrome
  • Spondyloarthropathy
  • Ankylosing spondylitis
  • Reiter’s syndrome
  • Psoriatic arthritis
  • Lyme disease

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Imaging

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  • Conventional radiograph of the joints and long bones
  • Diagnostic ultrasound of the aorta for possible aneurysm
  • Echocardiogram
  • EKG

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Diagnostic Procedures

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  • Joint deformities, subluxations, dislocations on plain radiograph
  • Aortic dilation or aneurysm on echocardiogram
  • Heart-valve dysfunction on echocardiogram

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Medication

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  • NSAIDs
  • Cortisone injection
  • Glucocorticoids or corticosteroids
  • Antibiotics

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Medical Procedures

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  • Surgery for aortic aneurysm, heart valve, detached retina

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  • To rheumatologist for assessment of underlying complications
  • To internal medicine specialist
  • To optometrist, for an annual eye exam
  • To cardiologist
  • To pulmonologist
  • To physical and rehabilitation medicine specialist
  • To geneticist for genetic testing

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  • Mobility
  • Self-care
  • Role at home and in community
  • School and work
  • Recreation, leisure, sports
  • Should avoid contact sports due to weakness of blood vessels and possible retinal detachment

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