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Review
. 2010 Dec;128(6):360-6.
doi: 10.1590/s1516-31802010000600009.

Marfan's syndrome: an overview

Shi-Min Yuan  1 , Hua Jing
Affiliations
Review

Marfan's syndrome: an overview

Shi-Min Yuan et al. Sao Paulo Med J. 2010 Dec.

Abstract
in English, Portuguese

Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder.

Síndrome de Marfan é uma condição autossômica dominante com prevalência estimada de 1 em 10.000 a 20.000 indivíduos. É uma rara desordem hereditária do tecido conjuntivo que afeta muitas partes do corpo. O diagnóstico da síndrome de Marfan é feito de acordo com uma revisão dos critérios diagnósticos conhecida como a nosologia Ghent, por meio de uma avaliação abrangente, em grande parte baseada em uma combinação de pequenas e grandes manifestações clínicas em vários sistemas de órgãos e na história familiar. Dilatação da raiz aórtica e prolapso da valva mitral são as principais apresentações entre as malformações cardiovasculares da síndrome de Marfan. A patogênese da síndrome de Marfan não foi totalmente esclarecida, mas acredita-se que mutações genéticas de fibrillina-1 exercem um efeito negativo dominante. Portanto, a síndrome de Marfan é denominada como fibrilinopatia, juntamente com outras desordens do tecido conectivo, com sutis diferenças nas manifestações clínicas. O tratamento pode incluir β-bloqueadores profiláticos e bloqueadores dos receptores da angiotensina II, a fim de retardar a dilatação da aorta ascendente e cirurgia profilática da aorta. De importância, a terapia com β-bloqueadores pode reduzir a ativação de TGF-β, que foi reconhecido como um fator contribuinte da síndrome de Marfan. O presente artigo visa proporcionar uma visão global desta rara desordem de hereditariedade.

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Conflict of interest statement

Conflict of interest: None

Figures

Figure 1.
Figure 1.. Aortogram showing dilated aortic root (arrow) of 5 cm in diameter, in a 44-year-old male patient with Marfan's syndrome.
Figure 2.
Figure 2.. Echocardiography showing aortic root dilation to 67 mm in diameter on a long-axis view, in a 34-year-old male patient with Marfan's syndrome.
Figure 3.
Figure 3.. Echocardiography on a 29-year-old male patient with Marfan's syndrome showing (A) mitral valve prolapse (anterior mitral leaflet flail) (arrow) on a four-chamber view, and (B) aortic root dilation and aortic dissection with an intimal flap (arrow) in the aortic cavity on a long-axis view.
See this image and copyright information in PMC

References

    1. Haneline M, Lewkovich GN. A narrative review of pathophysiological mechanisms associated with cervical artery dissection. J Can Chiropr Assoc. 2007;51(3):146–157. - PMC - PubMed
    1. Gelb BD. Marfan's syndrome and related disorders--more tightly connected than we thought. N Engl J Med. 2006;355(8):841–844. - PubMed
    1. Department of Cardiac Surgery . Veteran General Hospital. Marfan Syndrome (MFS); Available from: http://www.marfan.org.tw/index.php?job=art&articleid=a_20061102_005118. Accessed in 2010 (Apr 16)
    1. Marfan syndrome Available from: http://science.jrank.org/pages/4127/Marfan-Syndrome.html. Accessed in 2010 (Sep 29)
    1. Van de Velde S, Fillman R, Yandow S. Protrusio acetabuli in Marfan syndrome. History, diagnosis, and treatment. J Bone Joint Surg Am. 2006;88(3):639–646. - PubMed