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For further information, see CMDT Part 40-23: Marfan Syndrome

Key Features

Essentials of Diagnosis

  • Disproportionately tall stature, thoracic deformity, and joint laxity or contractures

  • Ectopia lentis and myopia

  • Aortic root dilation and dissection

  • Mitral valve prolapse

  • Pathogenic variants in the fibrillin gene (FBN1) on chromosome 15

General Considerations

  • Autosomal dominant pattern of inheritance

  • A systemic connective tissue disease characterized by

    • Abnormalities of the skeletal, ocular, and cardiovascular systems

    • Spontaneous pneumothorax

    • Dural ectasia

    • Striae atrophicae

  • Of most concern is disease of the ascending aorta, which is associated with a dilated aortic root

    • Histology of the aorta shows diffuse medial degeneration

  • Mitral valve prolapse is common and frequently leads to regurgitation

Clinical Findings

Symptoms and Signs

  • Wide variability in clinical presentation

  • Affected patients typically are tall, with particularly long arms, legs, and digits (arachnodactyly)

  • Commonly, scoliosis and pectus excavatum

  • Ectopia lentis, severe myopia, and retinal detachment

  • Mitral valve prolapse seen in more than half of patients

  • Ascending aortic involvement produces a dilated aortic root, aortic regurgitation, and aortic dissection

  • Spontaneous pneumothorax

  • Dural ectasia

  • Striae atrophicae

Differential Diagnosis

  • Tall stature (normal)

  • Homocystinuria (with lens dislocation) as a result of cystathionine β-synthase deficiency

  • Aortic root disease resulting from other cause, eg, ankylosing spondylitis, syphilis, temporal (giant cell) arteritis, Takayasu arteritis, familial aortic aneurysm, bicuspid aortic valve

  • Ehlers-Danlos syndrome

  • Loeys-Dietz syndrome

  • MASS phenotype

  • Idiopathic mitral valve prolapse


Laboratory Tests

  • No simple laboratory test

  • DNA analysis can detect pathogenic variants in the fibrillin gene (FBN1) on chromosome 15

  • Clinical diagnosis based on family history, detailed ophthalmologic examination (including slit lamp), echocardiography, and physical examination



  • Long-term β-adrenergic blockade (eg, atenolol, 1–2 mg/kg orally daily) retards the rate of aortic dilation

  • Angiotensin receptor blocker (ARB) treatment is no more effective than β-adrenergic blockade

  • Calcium channel blockers, once used as a substitute for β-blockade, are detrimental to the aorta


  • Prophylactic replacement of the aortic root (and, if necessary, aortic valve) when the diameter reaches 45–50 mm (normal: < 40 mm) prolongs life

  • Earlier prophylactic surgery should be considered when there is a strong family history of aortic dissection or when the diameter of the aortic root increases > 3–4 mm per year

  • Because of a heightened risk for aortic dissection in the peripartum and postpartum periods, women with an aortic root dimension > 40 mm should consider prophylactic, valve-sparing aortic repair before undertaking a pregnancy

Therapeutic Procedures

  • Restriction of vigorous physical exertion protects from aortic dissection




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