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    Ozyurt, Abdullah Baykan, A. Argun, M. Pamukcu, O. Halis, H. Korkut, S. Yuksel, Z. Gunes, T. and Narin, N. 2015. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases. Balkan Journal of Medical Genetics, Vol. 18, Issue. 1,


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Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition

  • Huda Elshershari (a1) and Catharine Harris (a2)
  • DOI: http://dx.doi.org/10.1017/S1047951113001029
  • Published online: 09 August 2013
Abstract
Abstract

We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.

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Corresponding author
Correspondence to: H. Elshershari, MD, Pediatric Cardiologist, 7520 Claridge Dr. Unit G, Bridgeview, IL 60455, United States of America. Tel: +1 708 598 4716; E-mail: Elshershari@hotmail.com
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3.M Tekin , FB Cengiz , E Ayberkin , et al. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A 2007; 143A: 875880.

4.JP Habashi , DP Judge , TM Holm , et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312: 117121.

5.P Lavoie , G Robitaille , M Agharazii , S Ledbetter , M Lebel , R Lariviere . Neutralization of transforming growth factor- beta attenuates hypertension and prevents renal injury in uremic rats. J Hypertens 2005; 23: 18951903.

6.BD Gelb . Marfan's syndrome and related disorders – more tightly connected than we thought. N Engl J Med 2006; 355: 841844.

7.BS Brooke , JP Habashi , DP Judge , N Patel , B Loeys , HC Dietz III. Angiotensin II blockade and Aortic – root dilatation in Marfans's syndrome. N Engl J Med 2008; 358: 27872795.

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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