Prenatal and postnatal echocardiographic manifestations of early-onset Marfan syndrome: a case report

Abstract

Early-onset Marfan syndrome (eoMFS) is a rare subset of Marfan syndrome with varying phenotypic expression that occurs in the neonatal and infantile periods. eoMFS has a poor prognosis and is associated with high rates of mortality. Most newborn eoMFS patients present with early onset heart failure that is resistant to treatment. However, eoMFS is not easily diagnosed prenatally. This study presents a case of eoMFS in which the patient was assessed to be normal in utero. The patient's developmental process is shown in relatively complete detail.