A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team.
Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.
Department of Medical Sciences, University of Oxford, Level 3, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Elliott J
EJ
Carande
Department of Medical Sciences, University of Oxford, Level 3, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Samuel J
0000-0002-0827-0262
SJ
Bilton
Department of Paediatric Cardiology, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Satish
S
Adwani