A case of neonatal Marfan syndrome with good late follow-up: is it possible to avoid an early unfavourable outcome?

Abstract

We report a case of a child with neonatal Marfan syndrome who was submitted for clinical and surgical treatment with good late outcome 9 years after the first cardiac operation.

Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice

“…In keeping with a critical contribution of hemodynamic stress, heart failure and infantile death in children with the most severe presentation of MFS uniformly associate with significant volume overload (44,45) and can be delayed or even prevented by aggressive surgical intervention for valve dysfunction (46)(47)(48). In this study, we utilized a standardized PO (via TAC) as a conditional provocation in young mice heterozygous for a typical MFS-associated missense mutation in fibrillin-1.…”

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

“…Factors significantly associated with shorter survival are presence of valvular insufficiencies, diaphragmatic hernia and a mutation in exons 25 or 26 [Stheneur et al, 2011]. However, several cases of neonatal Marfan syndromes with favorable outcome, up to 9 years after cardiac surgical management, have nonetheless been reported, but their initial presentations were less severe than our case [Rozendaal et al, 2011;Brito-Filho et al, 2013]. Furthermore, some prenatal findings may have been described in the literature, particularly cardiomegaly and aortic and pulmonary trunks enlargement [Gavilán et al, 2011].…”

Neonatal Marfan Syndrome: Improving the Bad Prognosis with a Strict Conservative Treatment with Carvedilol?

“…Excluding our patient, 3 infants with nMFS from the literature died early after cardiac surgery [6]. One case report showed a good late follow-up 9 years after Bentall-De Bonon procedure at 2 years of age [7]. However, this patient had no atrioventricular valve regurgitation.…”