Marfan Syndrome

Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient’s eyes, cardiovascular system, and musculoskeletal system. Marfan syndrome is caused by a gene mutation for fibrillin on chromosome 15.This disorder can be inherited by a parent or grandparent. Fibrillin is the main component of microfibrils that allow tissues to stretch repeatedly without weakening. Due to abnormal fibrillin, the connective tissues are looser than usual, which damages the support structures of the entire body.Marfan syndrome affects people in different ways. Some people have only mild symptoms, while others are more severely affected. Symptoms progress with age. Abnormalities of the body systems affected are: Skeletal: A person with Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a breastbone that is either protruding or indented,scoliosis, and flat feet. Eyes: More than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye.Cardiovascular system: Most people with Marfan syndrome have abnormalities associated with the heart and blood vessels.The aorta may be weakened and stretch, a process called aortic dilatation. Aortic dilatation increases the risk that the aorta will tear or rupture, causing serious heart problems or sometimes sudden death.