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

Abstract

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.

Figure 1

Photos of the proband taken at 6 weeks: (a) plagiocephaly with prominent coronal sutures. (b) Turricephaly. (c, d) Arachnodactyly. © Oxford Medical Illustration.

Figure 2

Presurgical echocardiographic features of the proband: (a) apical 4-chamber view demonstrating mitral regurgitation. (b) Apical 4-chamber view demonstrating tricuspid regurgitation. (c) Subcostal 4-chamber view demonstrating atrial septal defect. (d) Parasternal long axis view demonstrating mitral valve prolapse and aortic root dilatation.

Figure 3

CT scan taken at 7 months: (a) enlarged left atrium and dilated pulmonary trunk. (b) Atrial septal defect. (c) Dilated aortic root and patent ductus arteriosus.

Figure 4

Postsurgical echocardiographic features of the proband: apical 4-chamber view demonstrating reduced mitral regurgitation.