Marfan Syndrome

Marfan syndrome is a relatively rare congenital disorder that is closely related to malfunction of the connective tissue. It causes some complications including the feared aortic dissection.

Causes

The condition is caused by a genetic defect. This defect may occur as a new genetic mutation, or it is transmitted from a sick parent. The gene mutation affects the development of connective tissue. The connective tissue is important for proper function of blood vessel walls and musculoskeletal system (muscles, muscle tendons, bones, ligaments, etc.).

Symptoms

The symptoms begin to occur already in child’s age and manifest with characteristic appearance. The children are very slim and tall and this appearance persists also in adulthood. The patient has long limbs and long thin “spider fingers” (this is called arachnodactyly). The chest bone and the whole chest may be deformed with higher incidence of pectus excavatum. Eye affection occurs due to disorder of ligaments holding the eye lens – many people with Marfan syndrome are short-sighted. Severe consequences have decreased strength and stability of blood vessel walls as it significantly increases risk of very dangerous aortic dissection (see related article). In addition, the affected may experience signs of heart valve disease.

 

It is speculated that the famous violinist Paganini also suffered from Marfan syndrome and his slender fingers allowed him to achieve master level when playing violin. Another famous person with Marfan syndrome was probably the American President Abraham Lincoln.

Diagnosis

Marfan syndrome can be identified by its typical clinical signs and external appearance of the patient. Genetic testing can confirm the diagnosis. The dilation of chest aorta can be found and evaluated by echocardiography.

Prevention

The syndrome is genetically determined and can not be prevented. Patients with Marfan syndrome and confirmed dilation of chest aorta should undergo regular monitoring to prevent the aortic dissection.

Treatment

The syndrome can not be cured; it is only possible to treat its consequences and symptoms. Eye surgery aims to deal with the impaired function of the eye lens and vascular surgeons can solve the disorders of chest aorta including its acute dissection.