A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

• Published in: Case reports in pediatrics Vol. 2017; no. 2017; pp. 1 - 6
• Main Authors: Carande, Elliott J., Adwani, Satish, Bilton, Samuel J.
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01.01.2017; Hindawi; John Wiley & Sons, Inc; Wiley
• Subjects: Age; Cardiovascular diseases; Care and treatment; Case Report; Case studies; Complications and side effects; Diseases; Heart failure; Heart surgery; Hospitals; Infants (Newborn); Marfan syndrome; Medical prognosis; Mortality; Mutation; Ostomy; Patients; Risk factors
• ISSN: 2090-6803; 2090-6811
• DOI: 10.1155/2017/8952428

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 (FBN1 gene, 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.