Cardiovascular manifestations of Marfan syndrome are associated with increased mortality, especially in the pediatric population. Early recognition is critical to long-term management. We present two cases of genetically defined "classical" Marfan syndrome presenting with severe infantile aortic root dilatation among siblings and discuss options for therapy. KEYWORDS Aortic valve dilatation; classical Marfan syndrome; FBN1; fibrillin; neonatal Marfan syndrome T he "classic" Marfan syndrome (MFS) is an inherited autosomal dominant systemic connective tissue disorder affecting 2 to 3 per 10,000 individuals. [1][2][3][4] Mutations in the FBN1 gene, which is located on chromosome 15 and encodes the extracellular matrix glycoprotein fibrillin-1, are the genetic basis for its pathology. Cardinal manifestations of MFS involve the musculoskeletal, pulmonary, ocular, integumentary, and cardiovascular systems. Variability in severity and phenotypic presentation makes MFS a diagnostic challenge. Despite advancements in diagnostic capabilities and greater usage of genetic testing, there is a high degree of variability in the phenotypic manifestation of MFS in individuals (Table 1). 5 We report two siblings with infantile MFS with varying presentation and severe changes in cardiac morphology.
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