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ICD-9-CM Code

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  • 759.82 Marfan syndrome

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ICD-10-CM Codes

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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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Preferred Practice Pattern

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Key Features

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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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Clinical Findings

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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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Means of Confirmation or Diagnosis

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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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  • Genetic testing for Febrillin-1

  • Vision, annual eye exam

  • Pulmonary function test

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Findings and Interpretation

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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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Treatment

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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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Referrals/Admittance

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  • To rheumatologist for assessment of underlying complications

  • To internal medicine specialist

  • To optometrist, for an annual eye exam

  • To cardiologist

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