by KImberly Allen R.N.
Marfan syndrome is an inherited disorder affecting the connective tissue. Connective tissue is what holds us together, not just our bones and joints but it also holds our organs in place. This means that connective tissue can be found everywhere throughout our bodies.
Marfan Syndrome is a dominant genetic type of inherited disorder which means you only need to inherit the gene from one parent. This means that all children of a parent with marfan syndrome have a 50% chance of inheriting the gene that causes the disorder. However, it is possible for a child from two parents that do not have marfan syndrome to have the disorder, but it is rare. Most estimates are that there is only a 1 in 10,000 chance of 2 unaffected parents having a child with the disorder, that’s approximately 25% of all diagnosed cases. Marfan syndrome affects both men and women as well as people of all ethnic backgrounds where ever they live without prejudice. Estimates are that at least 1 out of every 5,000 people have marfan syndrome in the US and though it is considered rare it is the most common disorder affecting connective tissue.
Scientists know that the mutated gene that causes marfan syndrome is the FBN1 gene. This gene is responsible for the production of the protein that gives our connective tissue it’s strength and elasticity. In most cases the mutated gene is inherited from a parent with marfan syndrome, however in a very small number of cases scientists believe a mutation occurs at conception. When most people think of marfan syndrome they picture people that are really tall or that can stretch and bend in a variety of different ways. What people tend to forget is that we have connective tissue everywhere in our body including in and around our organs including the heart and blood vessels. Because of the many locations of connective tissue the more areas that can be affected. The more areas that can be affected leads to more possibilities of complications. Many of the complications related to marfan syndrome can be life threatening, especially those involving the heart and the aorta. The most common complication involving the aorta is an aortic aneurysm. In people with marfan syndrome the weak area is usually in an area known as the “aortic root”. The aortic root is the area where the aorta leaves the heart so when the heart contracts to push the oxygenated blood out into our body through the aortic artery this is where the pressure is at it’s greatest. Due to the weakness in the aortic wall the pressure from the blood flow forces the walls to bulge. In people with marfan syndrome that bulge usually spreads along the length of the aorta all the way into the abdomen. Survival rates from a rupture or tear of an aortic aneurysm of this nature are not high. Because the walls of the aorta is weakened it’s not only at risk for an aneurysm but the pressure can also cause tears in the wall allowing blood to leak out into the surrounding area causing damage and severe pain. Inside the heart the valves require a significant amount of connective tissue. If the connective tissue in the valves is affected the valves are not going to work properly. When the valves don’t work properly the heart has to work twice as hard and frequently the blood backs up leading to serious heart problems including congestive heart failure. there are numerous other complications that can be potentially serious including those involving the lungs.
There are no tests currently available to diagnose marfan syndrome. Drs need to rely on physical examination and complete family history to make the diagnosis. Once a tentative diagnosis is made the Dr will usually order an echocardiogram to assess the heart and aorta for potential weak areas that may cause problems.
Though there is no cure for marfan syndrome medical advances in the treatment of especially the potential cardiac complications have significantly improved the life span of people suffering from marfan syndrome. Many Drs will prescribe medication to keep the blood pressure down to prevent the aorta from stretching due to the force exerted on the walls as the blood is pumped out of the heart. There are also improved surgical techniques to repair valves that are not properly working that can help prevent other cardiac complications like congestive heart failure. Some children as well as teens may require a back brace to support the spine while they are growing to help prevent scoliosis. While exercise is always important people with marfan syndrome should avoid high impact and contact sports including weight lifting.
Living with any chronic genetic disorder can be extremely with many challenges and marfan syndrome is no different. Working with your Dr to develop an effective treatment plan including support groups can help you cope with the challenges ahead.
Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at firstname.lastname@example.org.