TY - JOUR AU - Ardhanari, Mohanageetha; Barbouth, Deborah; Swaminathan, Sethuraman TI - Early-Onset Marfan Syndrome: A Case Series SN - 2146-4596 SN - 2146-460X PY - 2019 JO - J Pediatr Genet JF - Journal of Pediatric Genetics LA - EN VL - 08 IS - 02 SP - 086 EP - 090 ET - 2018/11/02 DA - 2019/05/03 KW - Marfan syndrome KW - mitral valve prolapse KW - aortic root dilatation KW - FBN1 gene AB - 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. PB - Georg Thieme Verlag KG DO - 10.1055/s-0038-1675338 UR - http://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0038-1675338 ER -