Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue that mainly affects the cardiovascular system, skeletal system and the eyes. In most cases, Marfan syndrome originates in a mutation of the gene fibrilin-1 (FBN1) located in chromosome 15 (15q21.1), a glycoprotein widely distributed in elastic and non-elastic tissues. The estimated incidence of this disorder is 1 per 5000-10000 inhabitants.
The survival of these patients is mainly determined by the cardiovascular manifestations of the disorder, and aortic complications (dissection or rupture) are the most frequent cause of death. It has been established that it is necessary to closely follow individuals affected by this disease in order to replace enlarged parts of the aorta before complications occur. Complications of the syndrome are so common that estimated life expectancy for people with MFS who do not have a correct follow-up and treatment is 30 years, compared to 70 if suitable medical attention is received.
Due to the variety and severity of the anomalies that this syndrome presents, it is easy to understand why these patients must be diagnosed and receive long-term follow up from different specialists within the framework of a single multi-disciplinary team that can coordinate and guide the line to be taken.
As a result we have brought together a multi-disciplinary team to diagnose, follow-up and treat Marfan syndrome patients in the Heart Area of ICTA. This is the first Marfan Unit set up in the private health sector in Spain whose members possess experience in the dynamics and functioning of this syndrome, and who are the behind Canal Marfan, an informative website about this disease that has received the recognition of national and international audit bureaus (Web de Interés Sanitario, Web Médica Acreditada and HONcode). The strength of our group lies in the different specialties combined with the extensive experience of our surgical members in the repair of mitral, and particularly aortic, valves.
Aside from the availability of material resources, including state-of-the-art technology, this has been made possible thanks to the composition and coordination of a group of professionals who are experts in the diagnosis, medical management and surgical treatment of this disorder, and who employ the latest available techniques to achieve excellent results.