Neonatal Marfan syndrome (MFS)

Also termed as ‘early onset’ or ‘rapidly progressive’ MFS

Represents the most severe features of MFS in early childhood

A rare condition relative to classic and incomplete MFS, with very poor prognosis  

Genotypically and phenotypically distinct from the typical MFS

The diagnosis of this severe disease can be aided by identifying the underlying gene mutation variants

Mutations causing neonatal MFS are observed to cluster consistently in exons 23 – 32 of the FBN1 gene. A few studies have reported mutations outside this region of the FBN1 gene, to cause neonatal MFS

Clinically, neonatal MFS differs from the presentation of classic MFS in infants through the severity of cardiac and pulmonary manifestations such as mitral valve prolapse, mitral, tricuspid and pulmonary regurgitations and congenital pulmonary emphysema

Severe manifestations very early in life:

Congestive cardiac failure

Valvular insufficiencies

Aortic dissection

Other features:

Joint contractures



Ectopia lentis

Redundant loose skin

Crumpled ears

Treatment & Management:

Multidisciplinary approach should be considered to determine an effective treatment plan and early surgical management to prolong the patient’s life. This allows more time for long-term potential beneficial effects of intensive medical management

Heart surgery in these patients is complex and carries with it the risk of mortality and morbidity, including heart block, thrombosis and stroke

It is very important that invasive surgery decisions are made by a multidisciplinary team consisting of pediatric cardiologist, cardiothoracic surgeon, geneticist, and nursing input


Carande E.J. et al, A Case of neonatal Marfan Syndrome; Case Reports in Pediatrics, Vol. 2017

Peng et al, A novel fibrillin-1 gene missense muttaion associated with neonatal Marfan syndrome; BMC Pediatrics. 2016; 16:60