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11: MARFAN SYNDROME

Jacqueline van Duijn, DPT, PT, OCS; Eric Shamus, PhD, DPT, PT, CSCS; Arie J. Van Duijn, EdD, MSc, PT, OCS

CONDITION/DISORDER SYNONYM

  • Marfan’s syndrome

ICD-9-CM CODE

  • 759.82 Marfan syndrome

ICD-10-CM CODES

  • Q87.4 Marfan syndrome

  • Q87.40 Marfan syndrome, unspecified

  • Q87.41 Marfan syndrome with cardiovascular manifestations

  • Q87.410 Marfan syndrome with aortic dilation

  • Q87.418 Marfan syndrome with other cardiovascular manifestations

  • Q87.42 Marfan syndrome with ocular manifestations

  • Q87.43 Marfan syndrome with skeletal manifestation

PREFERRED PRACTICE PATTERN

  • 4D: Impaired Joint Mobility, Motor Function, Muscle Performance, and Range of motion Associated With Connective-Tissue Dysfunction1

PATIENT PRESENTATION

A 38-year-old woman presents with increasing complaints of fatigue, nearsightedness, and increasing joint pain, especially in the morning. She has an ectomorphic body type, with long and thin extremities and fingers. Her joints are generally hypermobile, and she has a moderate kyphosis of the thoracic spine. She complains of foot pain due to low arches, which is relieved by foot orthoses. She was previously diagnosed with mitral valve prolapse (MVP). Patient states she is having difficulty with when she is carrying her groceries from the car.

KEY FEATURES

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

    • MVP

    • Aortic dissection and disruption, which may cause sudden death

FIGURE 11-1

Marfan syndrome. Familial expression of upward dislocation of the lens (A, B) and arachnodactyly (C). (From Riordan-Eva P, Cunningham Jr ET. Vaughan & Asbury’s General Ophthalmology, 18th ed. http://www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

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Demographics

  • Inherited as an autosomal trait

  • Rare cases of spontaneous gene defect

  • Incidence: 1 in 5000 people2

  • Men and women equally affected

CLINICAL FINDINGS

SIGNS AND SYMPTOMS

  • Vision changes with possible retinal dysfunction

    • Detached retina

    • Cataracts

    • Subluxation of the lens

  • 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

    • Dilatation of the ascending aorta

    • 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 ...

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