Updated: 10/20/2022

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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