Non-cardiac manifestations of Marfan syndrome

Abstract

Because of the widespread distribution of fibrillin 1 in the body, Marfan syndrome (MFS) affects virtually every system. The expression of this single dominantly inherited gene is variable within a family, and between families. There is some genotype-phenotype correlation which is helpful in guiding long-term prognosis, and management. In general gene mutations have been reported in clusters, with those having mainly ocular manifestations occurring in exons 1 to 15 of this 65-exon gene; those causing cardiac problems often involving cysteine replacement in a calcium binding EGF-like sequence; the most severe mutations occurring in exons 25-32, causing neonatal MFS diagnosed at birth, and severe enough to cause death frequently before the age of 2. Other correlations will certainly be found in future. This condition is progressive, and the manifestations unfold according to age. For example, if the lens is going to dislocate this usually occurs by age 10; scoliosis usually presents itself between the ages of 8 and 15; height should be monitored carefully between the onset of puberty and cessation of growth approximately age 17 or 18. Holistic care should be offered by one doctor who oversees the patient's welfare. This should be a paediatrician, paediatric cardiologist, or general practitioner in the case of an affected child. Thereafter, the physician in charge of the most seriously affected system should be aware that other systems need to be managed through a referral network.

Keywords: Marfan syndrome (MFS); management; non-cardiac; systemic.

Video

Non-cardiac manifestations of Marfan syndrome.