Marfan Syndrome

From Anvita Health Wiki

Contents 1 Introduction 2 Epidemiology 3 Pathology 4 Clinical-manifestations 5 Laboratory 6 Diagnostic-procedures 7 Radiology 8 Management 9 More General Terms 10 Internet Database 11 References

Introduction

• Autosomal dominant disorder.

Epidemiology

• incidence 1 in 10,000
• autosomal dominant
• at least 25% of patients do not have affected parent (presumably due to new mutations)

Pathology

• myxomatous change of the mitral valve is common

• leaflet thickening
• chordal elongation
• spontaneous chordal rupture
• annular enlargement with mitral regurgitation
• increased risk of endocarditis

• aortic & mitral valvular incompetence
• aortic dilatation with aortic aneurysm
• dissecting aortic aneurysm frequently cause of death

Clinical-manifestations

• musculoskeletal manifestations:

• tall, slender stature
• arm span exceeds height (ratio > 1.05)
• long digits (arachnodactyly)
• thumb sign ( distal phalanx protrudes beyond border of clenched fist)
• wrist sign ( thumb & 5th digit overlap when around the wrist)
• sternal deformity, pigeon or funnel breast
• hyperextensibility of joints & ligaments
• reduced elbow extension (< 170 degrees)
• kyphoscoliosis
• erosion of lumbosacral vertebrae due to dural ectasia
• hammer toes
• long, narrow skull
• oral cavity

• crowded dentition
• high palate
• mandible malocclusion

• ocular manifestations:

• lenticular subluxations with diminished vision ( ectopia lentis)
• myopia
• cataracts

• pulmonary manifestations (10%)

• emphysema
• bullous lung disease
• spontaneous pneumothorax (5%)
• upper lobe fibrosis
• bronchiectasis

• cardiac

• aortic dissection
• aortic root dilation
• mitral valve prolapse

• central nervous system - dural ectasia
• obstructive sleep apnea occurs with a higher prevalence in Marfan's syndrome

Laboratory

• homocystinuria
• detection of fibrillin defects in cultured fibroblasts (not yet available)
• DNA analysis (not yet available)

Diagnostic-procedures

• echocardiogram

• enlargement of aortic root
• mitral valve abnormalities common

Radiology

• deformities of aorta & pulmonary artery

Management

• no established treatment
• cardiovascular disorders

• beta-blockers & ACE inhibitors have been proposed to prevent or slow aortic dilation
• regular monitoring with echocardiography

• immediately after diagnosis
• repeat in 6 months to assess progression
• then every 2 years

• surgical repair or replacement of aorta when aortic root is > 4.5-5.0 cm
• surgical repair or replacement of aortic valve &/or mitral valve as indicated
• pregnancy increases risk of aortic dissection [5]

• treatment of scoliosis

• mechanical bracing & physical therapy if > 20 degrees
• surgery if > 50 degrees
• estrogen has been tried in girls with scoliosis

• eye disorders

• dislocated lenses rarely require surgical removal
• patient should be monitored for retinal detachment

• endocarditis prophylaxis for mitral valve disorder

More General Terms

• genetic syndrome (multisystem disorder)

Internet Database

OMIM: 154700
OMIM: 134797

References

1. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 909
2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, 2192-93
3. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 757
4. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038, 2115-16
5. Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009
6. Marfan Syndrome: NIH Institute and Center Resources [1]

Marfan syndrome