Interdisciplinary Care Of People With Marfan Syndrome-Pharmacology, Pregnancy, Eye, Skeleton And Organizational Aspects

In the first part of this article the genetic basis, diagnosis, differential diagnosis, diagnostic imaging, follow-up, cardiovascular problems and manifestations in the aorta and the great vessels in patients with Marfan syndrome were discussed in detail. In this second part the pharmacological treatment, pregnancy-related issues, eye involvement and involvement of the spine as well as the organizational aspects of a Marfan consultation in patients with Marfan syndrome are explained. Marfan syndrome is the most frequent hereditary disease of connective tissue with vascular components and has a prevalence of 1-2:10,000. Marfan syndrome is caused by mutations in the gene encoding the extracellular matrix protein fibrillin-1. It is inherited in an autosomal dominant fashion. It is a multisystemic disease with involvement of the aorta and mitral valve with ocular and skeletal alterations. The involvement of the eye and/or the spine should not be underestimated as approximately 60% of patients with Marfan syndrome are affected by scoliosis as well as lens dislocation. Up until now no substance could show a clear advantage with respect to the clinical results in patients with Marfan syndrome; however, there is a general consensus that treatment with a beta blocker or angiotensin receptor blocker alone or as a combination treatment should be initiated in patients with Marfan syndrome. Particular attention should be paid when planning a pregnancy. If the aortic root reaches a diameter >4-4.5 cm, it is recommended that a prophylactic replacement of the aortic root should be considered or patients should be advised against pregnancy. Providing a structured long-term follow-up is essential for patients with Marfan syndrome.