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. 2017 Jan-Mar;43(1):91-94.
doi: 10.12865/CHSJ.43.01.15. Epub 2017 Sep 27.

Marfan Syndrome - Acute Aortic Dissection Due to Giant Aortic Aneurysm

O Munteanu  1 , I Donoiu  1 , O Istratoaie  1 , C Militaru  2
Affiliations

Marfan Syndrome - Acute Aortic Dissection Due to Giant Aortic Aneurysm

O Munteanu et al. Curr Health Sci J. 2017 Jan-Mar.

Abstract

Marfan syndrome is a genetic disorder with an estimated prevalence of 1/5000 births. Clinical manifestation and disease progress can vary among individuals affected therefore serial follow-up examinations are mandatory in order to prevent serious complications.We report a case of giant proximal aorta aneurysm with associated aortic dissection in a young patient with Marfan syndrome who neglected medical advice to undergo periodic medical evaluation.Given the fact that clinical manifestations may differ among patients making prediction of disease progression very difficult, the patient with Marfan syndrome should be carefully monitored.

Keywords: Aorta; Marfan Syndrome; aneurysm; dissecting.

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Figures

Figure 1
Figure 1
a-c. Antero-posterior (a) and lateral image of the patient in supine position (b).Arachnodactyly (c)
Figure 2
Figure 2
a-d. Echocardiographic assessment of proximal aorta. Morphology (a, b); aortic regurgitation (c, d)
Figure 3
Figure 3
.a-b. Intraoperative image.Before inserting the graft (a). After graft replacement (b)
See this image and copyright information in PMC

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References

    1. Fusar-Poli P, Klersy C, Stramesi F, Callegari A, Arbustini E, Politi P. Determinants of quality of life in Marfan syndrome. Psychosomatics. 2008;49(3):243–248. - PubMed
    1. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopialentis and neonatal Marfan syndrome. Nat Genet. 1994;6:64–69. - PubMed
    1. Dietz HC, Loeys B, Carta L, Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet. 2005;139C(1):4–9. - PubMed
    1. Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment. CurrOpin Genet Dev. 2007;17(3):252–258. - PubMed
    1. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007;81(3):454–466. - PMC - PubMed

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