Advances in genetic testing means that more mutations associated with Marfan symdrome can be identified in the early stages of the disorder. Dr Ann Child, from the Marfan Unit at CVSRC was involved in a recent study run by the AP-HP, Hôpital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés in Paris, France that investigated the cardiovascular manifestations of the FBN1 mutation.
The cardiovascular risks associated with the FBN1 mutation were analysed in a study that examined 1,013 patients, all of whom had the pathogenic FBN1 mutation.
This study showed that the percentage of patients with ascending aortic (AA) dilation increased with age, and men were at higher risk than women for developing AA dilation and aortic events.
The results of this study highlight the importance of the cardiovascular risk of the FBN1 mutation in patients. The CV risk is present throughout the patient’s life, and increases with age, warranting regular aortic monitoring in this patient population.
Further reading
Detaint D, Faivre L, Collod-Beroud G, et al., Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur J Heart 2010; 31(18): 2223-9.