Any child that presents to an emergency room with severe chest pain, as in a heart attack, could have an abnormality in the connective tissue of the wall of their aorta, which is a major vessel in the heart. Marfan syndrome is a condition in which your body’s connective tissue is abnormal. Connective tissue helps to support all parts of your body and controls how your body grows. Marfan syndrome occurs in many different parts of the body. Most people who have Marfan syndrome inherit it from their parents. Marfan syndrome features are usually found in the heart, blood vessels, bones, joints and eyes. It is caused by a defect or mutation in the gene that tells the body how to make a protein that is an important part of connective tissues. It can appear at any age, including infants and young children.
A person with Marfan syndrome displays at least 3 features in different parts of the body (rarely, someone has every feature). Body systems affected include the heart and blood vessel (enlarged or bulging aorta (the main blood vessel that carries blood from the heart), separation of the layers of the aorta that can cause it to tear, floppy mitral valve or prolapse, long arms and legs, tall and thin body type, curvature of the spine, chest sinks in, long thin fingers, flexible joints, flat feet and teeth that are too crowded, nearsightedness, dislocated lens of the eye, detached retina, early glaucoma, early cataracts, stretch marks on the skin not explained by weight gain of pregnancy, sudden collapse of the lung, and swelling of the sac around the spinal column.
There isn’t a single conclusive test to diagnose it. People who have Marfan syndrome have similar traits. They have heart problems, are often tall and thin, have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems. Sometimes symptoms are mild. Severe cases are life threatening at any age.
You will require regular visits to a cardiologist for chest x-rays and Doppler echo tests. Some need no treatment at all while others may need drugs that lower the heart rate, blood pressure or both. Surgery is advised for aorta valve major problems. Your cardiologist can give you advice on exercise according to the severity of Marfan syndrome. For dilation of the aorta you may be asked to avoid team supports, weight lifting, rowing or any contact sports in which a blow to the chest may occur. Most children and adults can participate in modified physical and recreational activities.
American Heart Association: http://www.americanheart.org/presenter.jhtml?identifier=4672
National Marfan Foundation: http://www.marfan.org/marfan/
Journal of Medical Genetics: “The revised Ghent Nosology for the Marfan Syndrome” 2009
The Children’s Heart Institute: http://www.childrensheartinstitute.org/educate/marfan/marfan.htm