Updated: 7/27/2019

Marfan Syndrome

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Snapshot
  • A 30-year-old man with a marfanoid habitus presents for genetic counseling. His father, paternal uncle, and paternal great-grandfather died of sudden cardiac deaths. His father, specifically, suffered from an aortic dissection. As part of this patient's work-up, he recently had cardiac imaging, which reveals a 5 cm aortic aneurysm. He is sent for further surgical consultation and is tested for suspected Marfan syndrome.
Overview
Introduction
  • Clinical definition
    • inherited connective tissue disorder characterized by aortic abnormalities and musculoskeletal deformities
  • Epidemiology
    • demographics
      • clinical manifestations typically occur in adulthood
  • Pathogenesis
    • fibrillins form a major part of connective tissues and provide structural support and elasticity to blood vessels, skin, and bones
    • abnormalities in fibrillin can result in
      • aortic abnormalities (cystic medial necrosis)
      • ectopic lens (structural weakness in ligaments of the lens)
      • skeletal deformities
  • Genetics
    • inheritance pattern
      • autosomal dominant
    • mutations 
      • FBN1 gene is on chromosome 15 and encodes fibrillin-1, a glycoprotein that forms a protective sheath around elastin 
        • elastin is found in multiple parts of the body, including large arteries, skin, lungs, and ligaments
  • Prognosis
    • survival has improved with better management of aortic disease
    • with early diagnosis and management, patients often have a normal life expectancy
Presentation
  • Physical exam
    • skeletal 
      • tall and thin stature 
      • long extremities
        • arm span exceeds height
      • long fingers and toes (arachnodactyly)
        • thumbnail protrudes beyond ulnar border of hand when crossed (thumb sign)
        • thumb and little finger can encircle wrist (wrist sign)
      • pectus carinatum or excavatum
      • scoliosis
      • hypermobile joints
    • ocular
      • subluxation of lenses (superior and temporal)
    • cardiovascular
      • mitral valve prolapse
        • mid-systolic click followed by a late systolic murmur
      • aortic regurgitation
        • diastolic murmur
      • mitral regurgitation
        • high-pitched holosystolic murmur
Imaging
  • Transthoracic echocardiography
    • indication
      • for all patients to evaluate for cardiac involvement
    • findings
      • mitral or aortic valve abnormalities
      • aortic aneurysm or dissection
Studies
  • Making the diagnosis
    • based on clinical presentation
    • genetic testing is not always necessary but is diagnostic
Differential
  • Ehlers-Danlos syndrome 
    • distinguishing factor
      • hyperextensible skin and easy bruising
      • middle-sized artery aneurysms > aortic aneurysms
Treatment
  • Management approach
    • no curative treatment exists, so treatment is targeted at symptoms
  • Conservative
    • avoid high-impact contact sports
      • indication
        • for all patients
  • Medical
    • β-blockers or angiotensin receptor blockers
      • indications
        • to halt the progression of aortic root dilation
  • Operative
    • aortic aneurysm repair
      • indication
        • patients with aneurysms ≥ 4-4.5 cm
Complications
  • Aortic dissection
    • most common cause of death
  • Congestive heart failure from cardiac valve abnormalities

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