Key result
Early multidisciplinary care and mitral valvuloplasty achieve survival to ~3 years in severe neonatal Marfan syndrome.
Case Report (n=1)
Early multidisciplinary intervention, including mitral valvuloplasty, can lead to successful medium-term survival in neonatal Marfan syndrome, a condition typically associated with a poor prognosis.
May support early multidisciplinary intervention in neonatal Marfan syndrome; leaves open need for prospective data on survival benefit.
Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female offspring of healthy parents is described here. The pregnancy was uneventful and the mother had a term caesarean delivery. At birth, some dysmorphic signs became apparent, such as loose redundant skin, dolichocephaly, frontal bossing, deeply sunken eyes, micrognathia, contractures of the elbows, arachnodactyly and hip dysplasia. The echocardiogram showed a mitral and tricuspid valve regurgitation and a long aortic arch. The diagnosis of neonatal MFS came forward and genetic studies revealed a de novo mutation in the fibrillin 1 (FBN1) gene. At 6 months, due to a progressive worsening of the cardiac pathology, she was submitted to mitral valvuloplasty. She is now 2 years and 10 months old, which is a remarkable feat for a child suffering from this condition.
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Amadó et al. (2014) conducted a case report in Neonatal Marfan syndrome (n=1). Early multidisciplinary approach and mitral valvuloplasty was evaluated. Early multidisciplinary management and mitral valvuloplasty at 6 months enabled a female neonate with severe neonatal Marfan syndrome to survive to at least 2 years and 10 months of age.
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