Marfan Syndrome 

Marfan Syndrome is caused by a genetic mutation that results in connective tissue disorder that affects numerous organ systems. Marfan syndrome affects both genders and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 individuals in the United States have this disorder. The primary purpose of connective tissue is to function as the framework of all organ systems and is instrumental in cell growth and development. The defective connective tissue in Marfan syndrome can affect many organ systems (including the skeleton, eyes, heart, nervous system, skin and lungs), however, its effects on the blood vessels – in particular on the aorta – can be life threatening. Since connective tissue provides the tensile strength of the aortic wall, the lack of structural support to the aorta can lead to the formation of an aneurysm. In addition, the aneurysm can eventually tear or rupture. The risk of rupture increases with the diameter of the aorta and therefore all patients with Marfan syndrome or other connective tissue disorders should be followed closely for growth of the aorta. 

The most common place for aneurysms to occur in Marfan patients is at the level of the aortic root. As the aortic root aneurysm expands, this can cause insufficiency (leakage) of the aortic valve and eventually lead to symptoms like shortness of breath, fatigue, and chest pain. Aneurysms can develop in the abdomen and in the descending thoracic aorta. Once the aorta of a Marfan patient is dissected urgent surgical intervention is necessary. The diameter of aorta in which rupture or dissection may occur is much smaller than patients without a connective tissue disorder.

Contact Us

Allan Stewart, MD
Director, Aortic Surgery Program
Department of Cardiovascular Surgery
The Mount Sinai Health System
1190 Fifth Ave: Box 1028

Assistant: Debra Segreti
Office: 212-659-6807
Fax: 212-659-6818