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Molecular Diagnosis of the Marfan Syndrome

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Cardiovascular Genetics for Clinicians

Part of the book series: Developments in Cardiovascular Medicine ((DICM,volume 239))

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Abstract

The Marfan syndrome (MFS) is a pleiotropic disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and skeletal abnormalities such as scoliosis, pectus deformities, arachnodactyly and dolichostenomelia. The primary cause of death in MFS is aortic dissection or rupture as a consequence of progressive dilatation of the aortic root. The MFS is estimated to have a prevalence of 2– 3 per 10,000 individuals, which makes it one of the most common hereditary disorders of connective tissue [1]. The average life expectancy of individuals with MFS has risen significantly since 1972 [2], which is due mainly to improved management of the cardiovascular complications, including beta-adrenergic blockade [3] routine imaging of the aorta, and prophylactic replacement of the aortic root before the diameter exceeds 5.5 to 6.0 cm [4].

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Authors
  1. P. N. Robinson
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Editors and Affiliations

  1. Academic Hospital Maastricht, Maastricht, The Netherlands

    P. A. Doevendans

  2. Academic Medical Center, Amsterdam, The Netherlands

    A. A. M. Wilde

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© 2001 Springer Science+Business Media Dordrecht

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Robinson, P.N. (2001). Molecular Diagnosis of the Marfan Syndrome. In: Doevendans, P.A., Wilde, A.A.M. (eds) Cardiovascular Genetics for Clinicians. Developments in Cardiovascular Medicine, vol 239. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-1019-1_9

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  • DOI: https://doi.org/10.1007/978-94-010-1019-1_9

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-3888-1

  • Online ISBN: 978-94-010-1019-1

  • eBook Packages: Springer Book Archive

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