Early-Onset Marfan Syndrome: A Case Series

Mohanageetha Ardhanari; Deborah Barbouth; Sethuraman Swaminathan

doi:10.1055/s-0038-1675338

Journal of Pediatric Genetics, Inhaltsverzeichnis

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

¹Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, Florida, United States

,

Deborah Barbouth

²Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida, United States

,

Sethuraman Swaminathan

¹Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, Florida, United States

› Institutsangaben

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

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Referenzen

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