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The Marfan Syndrome

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Aortopathy

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Abstract

Marfan syndrome is an autosomal dominant disorder of connective tissue in which abnormalities in the cardiovascular, skeletal, and ocular systems may be present to a highly variable degree. Marfan syndrome is caused by mutations in the FBN1 gene, which affect the structural integrity of the extracellular matrix and weaken the connective tissues. Prevalence has been estimated at 2–3 per 10,000 individuals and about 25 % of patients represent new mutations. Prognosis is mainly determined by progressive dilation of the aorta, which may lead to aortic dissection and death at a young age. Therefore, early identification of patients with Marfan syndrome is of considerable importance, and regular imaging of the aortic root and all other parts of the aorta is crucial in the follow-up. To prevent premature death, prophylactic aortic root surgery is performed in a person with normal body surface area when reaching a certain threshold (45–50 mm), and β-blockers are prescribed to reduce the aortic wall stress, reduce aortic dilation rate, and subsequently delay the time to prophylactic surgery. Currently, losartan treatment is evaluated as a novel pharmacological treatment strategy to prevent aortic dilation and aortic complications. Patients should be advised to avoid situations that increase blood pressure and heart rate dramatically.

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Author information

Authors and Affiliations

  1. Department of Cardiology, Academic Medical Center Amsterdam, Meibergdreef 9 room B2-240, 1105 AZ, Amsterdam, The Netherlands

    Romy Franken & Barbara J. M. Mulder

  2. Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands

    Barbara J. M. Mulder

Authors
  1. Romy Franken
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  2. Barbara J. M. Mulder
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Correspondence to Barbara J. M. Mulder .

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Editors and Affiliations

  1. Cardiovascular Center, St Luke’s International Hospital, Chuo-ku, Tokyo, Japan

    Koichiro Niwa

  2. ACHD Unit, German Heart Centre Munich, Munich, Bayern, Germany

    Harald Kaemmerer

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Franken, R., Mulder, B.J.M. (2017). The Marfan Syndrome. In: Niwa, K., Kaemmerer, H. (eds) Aortopathy. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56071-5_14

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  • DOI: https://doi.org/10.1007/978-4-431-56071-5_14

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  • Publisher Name: Springer, Tokyo

  • Print ISBN: 978-4-431-56069-2

  • Online ISBN: 978-4-431-56071-5

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