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