Marfan syndrome

• 759.82 Marfan syndrome

• 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

• 4D: Impaired joint mobility, motor function, muscle performance, and range of motion associated with connective tissue dysfunction1

Description

• 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)

Essentials of Diagnosis

• Diagnostic criteria defined in the Ghent nosology

General Considerations

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

Demographics

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

Signs and Symptoms

• 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

Functional Implications

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

Possible Contributing Causes

• Gene mutation

Differential Diagnosis

• 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

Imaging

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

Diagnostic Procedures

• Genetic testing for Febrillin-1
• Vision, annual eye exam
• Pulmonary function test

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

Medication

• NSAIDs
• Cortisone injection
• Glucocorticoids or corticosteroids
• Antibiotics

Medical Procedures

• Surgery for aortic aneurysm, heart valve, detached retina

• 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

• 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 ...