Cardiovascular pathology in Marfan syndrome — An overview

  • A. E. Becker


The clinical presentation of arachnodactyly, better known as Marfan syndrome, has been recognized for almost 100 years, but it is only relatively recent that McKusick (4) described the clinical presentation in detail and, moreover, identified the syndrome as an inherited connective tissue disease. Despite the heterogeneity in the phenotypic expression of the disease, Marfan syndrome was subsequently characterized as an autosomal dominant connective tissue disorder (5). Marfan syndrome occurs with an estimated preference of 1 : 10 000; the majority being familial, but approximately 15–30% of the patients are sporadic (5). The phenotypic features of Marfan syndrome vary, but include skeletal, ocular and cardiovascular manifestations. The skeletal symptoms of Marfan syndrome include increased height, disproportionally long limbs and digits and anterior chest deformities. The typical ocular findings include myopia and subluxation of the lenses. The most serious and often life-threatening manifestations of Marfan syndrome occur in the cardiovascular system. Aortic root dilation and aneurysm formation of the ascending aorta are the most prominent and aortic wall rupture, with or without aortic dissection, is a common cause of death.


Aortic Valve Mitral Valve Aortic Dissection Aortic Wall Marfan Syndrome 
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  1. 1.
    Godfrey M, Menashe V, Weleber RG, Koler RD, Bigley RH, Lovrien E, Zonana J, Hollister DW (1990) Cosegration of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families. Am J Hum Genet 46: 652–660PubMedGoogle Scholar
  2. 2.
    Hollister DW, Godfrey M, Sakai LY, Pyeritz RE (1990) Immunohistologic abnormalities of the mieroflbrillar-fiber system in the Marfan syndrome. N Engl J Med 323: 152–159PubMedCrossRefGoogle Scholar
  3. 3.
    Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L (1990) Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 323: 935–939PubMedCrossRefGoogle Scholar
  4. 4.
    McKusick VA (1955) The cardiovascular aspects of Marfan’s syndrome: a heritable disorder of connective tissue. Circulation 11: 321–342PubMedGoogle Scholar
  5. 5.
    Pyeritz RE, McKusick (1979) The Marfan syndrome: diagnosis and management. N Engl J Med 300: 772–777PubMedCrossRefGoogle Scholar
  6. 6.
    Sakai LY, Keene DR, Engvall E (1986) Fibrillin, a new 350-kD glycoprotein is a component of extracellular microfibrils. J Cell Biol 103: 2499–2509PubMedCrossRefGoogle Scholar

Copyright information

© Dr. Dietrich Steinkopff Verlag GmbH & Co. KG, Darmstadt 1995

Authors and Affiliations

  • A. E. Becker
    • 1
  1. 1.Department of Cardiovascular PathologyUniversity of Amsterdam, Academic Medical CenterAmsterdamThe Netherlands

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