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You are here: Home / Bone Diseases / What Is Marfan Syndrome?

What Is Marfan Syndrome?

Dr Arun Pal Singh ·

Last Updated on March 20, 2024

Marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait which has features like tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection.

Contents hide
1 Pathophysiology
2 Occurrence
3 Presentation & Diagnosis
3.1 Laboratory Studies
3.2 Imaging in Marfan Syndrome
3.3 Treatment of Marfan Syndrome

Pathophysiology

Marfan syndrome results from mutations in the fibrillin-1  gene on chromosome 15, which encodes for the glycoprotein fibrillin.

Fibrillin is used as a major building block of microfibrils, which constitute the structural components of the suspensory ligament of the lens and serve as substrates for elastin in the aorta and other connective tissues.

Production of abnormal fibrillin-1 monomers from the mutated gene disrupts the multimerization of fibrillin-1 and prevents microfibril formation.

Occurrence

Marfan syndrome affects about 1 in 10,000 individuals. It affects all races and no sex predilection is known.

Presentation & Diagnosis

Diagnosis of Marfan syndrome is based on

  • Family history
  • Molecular analysis
  • Evaluation of six organ systems.

Clinical presentations include

  • Delayed  motor milestones
  • Finding of aortic regurgitation on examination
  • Irregular heartbeat
  • Acute onset thoracic pain due to aortic dissection
  • Low back pain with sensory symptoms like paresthesiae in legs due to dural ectasia [ widening or ballooning of the dural sac[
  • Joint pains
  • Dyspnea, palpitations, and substernal pain in severe pectus excavatum
  • Visual problems including  loss of vision[Lens dislocation or retinal detachment.]

Skeletal System

Major criteria

  • Pectus excavatum that requires surgery
  • Arm span-to-height ratio greater than 1.05
  • Positive wrist (Walker) and thumb (Steinberg) signs.
    • Thumb sign- If the thumb, when completely opposed within the clenched hand, projects beyond the ulnar border
    • Wrist sign – The wrist sign is positive if the distal phalanges of the first and fifth digits of one hand overlap when wrapped around the opposite wrist
  • Scoliosis greater than 20°
  • Reduced extension of the elbows < 170°
  • Medial displacement of the medial malleolus, resulting in pes planus [flat fooot]
  • Protrusio acetabuli [The acetabulum invaginates the pelvic cavity]
Wrist sign in Marfan Syndrome
Wrist sign in Marfan Syndrome

Minor criteria

  • Moderate Pectus excavatum
  • Scoliosis < 20°
  • Thoracic lordosis
  • Joint hypermobility
  • Highly arched palate
  • Dental crowding
  • Typical facies

At least 2 major criteria or 1 major criterion plus 2 minor criteria must be present for labeling skeletal system involvement.

Ocular findings

The major criterion is ectopia lentis [lens dislocation]

Minor criteria

  • Flat cornea
  • Increased axial length of the globe
  • Cataract  in patients younger than 50 years
  • Hypoplastic iris or hypoplastic ciliary muscle that causes decreased miosis
  • Nearsightedness
  • Glaucoma in  < 50 years old patients
  • Retinal detachment

At least 2 minor criteria must be present.

Cardiovascular

Major criteria

  • Aortic root dilatation
  • Aortic dissections involving the ascending aorta

Minor criteria

  • Mitral valve prolapse
  • Dilatation of proximal main pulmonary artery in the absence of peripheral pulmonic stenosis or other cause.
  • Calcification of mitral annulus in patients younger than 40 years of age
  • Dilatation of abdominal or descending thoracic aorta  patients younger than 50 years of age

A minor criterion must be present to label CVS as an involved system

Pulmonary

Only minor criteria

  • Spontaneous pneumothorax
  • Apical blebs on chest radiograph are noted.

A minor criterion must be present to label the involvement of this system

Skin & Integument

Only minor criteria

  • Stretch marks [Shoulder, mid back, and thighs]
  • A recurrent or incisional hernia

Dural

Only one major criterion is defined- Dural ectasia

Laboratory Studies

Molecular studies of the fibrillin gene should be carried out in patients wherein patients in whom Marfan syndrome is suspected.

Imaging in Marfan Syndrome

Radiography

Chest radiographs may show apical blebs  [Pockets of fluid]. It may also show enlargement of the aortic and cardiac silhouette and aid in the diagnosis of aortic dissection.
Skeletal X-rays might reveal the skeletal deformities mentioned earlier

Echocardiography

Aids in the diagnosis and management of aortic root dilatation.

CT and MRI

MRI can reveal aortic dissection and dural ectasia.

Treatment of Marfan Syndrome

Treatment aims at measures to make the life quality better and early detection of problems if they arise. These measures include

  • Restriction of physical activity
  • Prophylaxis for endocarditis
  • Regular echocardiography at
  • Treatment with beta-blockers [for aortic dilatation]
  • Management of individual problems
  • Pregnancy counseling

Bone Diseases This article has been medically reviewed by Dr. Arun Pal Singh, MBBS, MS (Orthopedics)

About Dr Arun Pal Singh

Dr. Arun Pal Singh is a practicing orthopedic surgeon with over 20 years of clinical experience in orthopedic surgery, specializing in trauma care, fracture management, and spine disorders.

BoneAndSpine.com is dedicated to providing structured, detailed, and clinically grounded orthopedic knowledge for medical students, healthcare professionals, patients and serious learners.
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Dr. Arun Pal Singh is an orthopedic surgeon with over 20 years of experience in trauma and spine care. He founded Bone & Spine to simplify medical knowledge for patients and professionals alike. Read More…

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