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J Pediatr Genet 2019; 08(02): 086-090
DOI: 10.1055/s-0038-1675338
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Early-Onset Marfan Syndrome: A Case Series

Mohanageetha Ardhanari
1   Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, Florida, United States
,
Deborah Barbouth
2   Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida, United States
,
Sethuraman Swaminathan
1   Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, Florida, United States
› Author Affiliations Funding None.
Further Information

Publication History

08 August 2018

17 September 2018

Publication Date:
02 November 2018 (online)

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Abstract

Mutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutations restricted to the gene “hotspot” region of exons 24 to 32. Historically, affected individuals usually die within the first few years of life due to heart failure secondary to severe valvular insufficiency. We report three patients with early-onset MFS, whose clinical evolution has been remarkably positive, when compared with other reported cases in the literature.

Keywords

Marfan syndrome - mitral valve prolapse - aortic root dilatation - FBN1 gene

Financial Disclosure

All the authors have no financial relationships relevant to this manuscript to disclose.


 

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