Marfan Syndrome and other related connective tissue disorders

Marfan Syndrome is caused by an abnormality in a gene that when present causes abnormal formation of connective tissue.  The abnormality is found throughout the entire body, especially in the lining of all vessels and can cause a weakening of the vessels, particularly the aorta.

People who have Marfan Syndrome can have aneurysm of aorta (enlarged aorta) and disease of their aortic and mitral valves. They can also have health problems related to the eyes, bones, joints and lungs.

We provide a comprehensive care for patients and their families with Marfan or similar conditions, including diagnosis, family screening, counselling, specialist imaging, medical and surgical treatment and follow-up.

Aims of treatment are to reduce stress on the aorta and in some cases surgery may be necessary.

Although Marfan syndrome shares features with other connective tissue disorders such as Loeys-Dietz and Ehlers-Danlos syndromes, it stems from different genetic mutations.

Loeys-Dietz

Loeys-Dietz syndrome is a genetic disorder of the connective tissues affecting bones, blood vessels, skin, heart and other organs. Because the syndrome was only identified in 2005, many doctors may not be aware of its existence. Aims of the treatment are to reduce stress on the aorta and arteries.  In some cases, surgery may be necessary. Genetic screening is provided by or genetics team.

Ehlers-Danlos

Ehlers-Danlos are a group of rare inherited conditions that affect connective tissue including the wall of the aorta causing aneurysm formation.  It can sometimes affect the mitral valve causing mitral valve prolapse.