Chronic heart disease in pregnancy: exploring Marfan syndrome

Marfan syndrome (MFS) was first described by the French doctor Bernard JA Marfan in 1896. It is a hereditary autosomal dominant disorder of connective tissue and affects collagen and elastin in many parts of the body, including the musculoskeletal, cardiovascular, respiratory, ocular and integumentary systems (Keane and Pyeritz, 2008).

The Marfan Foundation (2018) states that the incidence of MFS in the UK population is approximately 18 000, with 200 new cases diagnosed every year in the UK and worldwide, statistics show that 1 in 3 300 are affected by MFS with about 50% of sufferers remaining undiagnosed.

MFS is caused by a mutation in the gene for fibrillin-1 on chromosome 15. There are more than >1 000 mutations and each one is unique to an individual or family (Keane and Pyeritz, 2008). If one parent has MFS, there is a 50% risk of the fetus inheriting the mutant gene (Robson and Waugh, 2013). Gambling et al (2008) suggest that 25% of diagnosed cases arise as new mutations. Further research would be beneficial, as the correlation between the genotype-phenotype of MFS is unclear due to the large number of unique mutations.