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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,


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:
  • Published online: 09 August 2013

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.

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:
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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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