Question: What are the symptoms of Marfan Syndrome ?
Answer: Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family. Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening. Marfan Traits Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as: A tall, thin build. Long arms, legs, fingers, and toes and flexible joints. A spine that curves to one side. This condition is called scoliosis. A chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively. Teeth that are too crowded. Flat feet. Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen. Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders. Complications of Marfan Syndrome Heart and Blood Vessel Complications The most serious complications of Marfan syndrome involve the heart and blood vessels. Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm. If the aorta stretches and grows weak, it may tear and leak blood. This condition, called aortic dissection, can lead to severe heart problems or even death. Aortic dissection can cause severe pain in either the front or back of the chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 911. Marfan syndrome also can cause problems with the heart's mitral (MI-trul) valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP). MVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can cause shortness of breath, palpitations (pal-pi-TA-shuns), chest pain, and other symptoms. If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope. A heart murmur is an extra or unusual sound heard during the heartbeat. Eye Complications Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome. Other eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye's lens). A detached retina also can occur. Nervous System Complications Fluid surrounds your brain and spinal cord. A substance called dura covers the fluid. In Marfan syndrome, the dura can stretch and grow weak. This condition, called dural ectasia (ek-TA-ze-ah), can occur in people who have Marfan syndrome as they grow older. Eventually, the bones of the spine may wear away. Symptoms of this condition are lower back pain, abdominal pain, headache, and numbness in the legs. Lung Complications Marfan syndrome can cause sudden pneumothorax (noo-mo-THOR-aks), or collapsed lung. In this condition, air or gas builds up in the space between the lungs and chest wall. If enough air or gas builds up, a lung can collapse. The most common symptoms of a collapsed lung are sudden pain in one side of the lung and shortness of breath. Conditions such as scoliosis (a curved spine) and pectus excavatum (a chest that sinks in) can prevent the lungs from expanding fully. This can cause breathing problems. Marfan syndrome also can cause changes in the lung tissue, and it can lead to early emphysema (em-fi-SE-ma). Marfan syndrome also has been linked to sleep apnea. In people who have Marfan syndrome, the shape of the face, oral cavity, or teeth may increase the risk of sleep apnea. Sleep apnea causes one or more pauses in breathing or shallow breaths while you sleep. Breathing pauses can last from a few seconds to minutes. They often occur 5 to 30 times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.
Source: NHLBI

Question: How to diagnose Marfan Syndrome ?
Answer: Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and test results. He or she also will consult a set of guidelines called Ghent criteria, which are used to diagnose Marfan syndrome. Marfan syndrome can be hard to diagnose. This is because its signs, or traits, are the same as or similar to the signs of other connective tissue disorders. If you're diagnosed with Marfan syndrome, all of your first-degree relatives (for example, parents, siblings, and children) also should be checked for the disorder. This is because, even in families, the outward traits of Marfan syndrome may vary quite a bit. Specialists Involved Your family doctor or another type of doctor, such as an orthopedist (bone specialist), may notice certain traits that suggest Marfan syndrome. If so, your doctor will likely refer you to a geneticist or cardiologist. A geneticist is hereditary disease expert. A cardiologist is a heart specialist. These two types of specialists often have the most experience working with people who have Marfan syndrome. A geneticist will ask for medical information about you and your family. He or she will examine you and perhaps other members of your family. The geneticist also will coordinate your visits with other doctors, including a cardiologist, an ophthalmologist (eye specialist), and an orthopedist. After reviewing the medical findings, the geneticist will determine whether you have Marfan syndrome. Medical and Family Histories Your doctor will ask about your medical history and your family's medical history. For example, your doctor may ask whether: You've had heart disease, eye problems, or problems with your spine. These complications are common in people who have Marfan syndrome. You have shortness of breath, palpitations, or chest pain. These are common symptoms of heart or lung problems linked to Marfan syndrome. Any of your family members have Marfan syndrome, have died from heart problems, or have died suddenly. Physical Exam During the physical exam, your doctor will look for Marfan syndrome traits. For example, he or she may check the curve of your spine and the shape of your feet. Your doctor also will listen to your heart and lungs with a stethoscope. Diagnostic Tests Your doctor may recommend one or more of the following tests to help diagnose Marfan syndrome. Echocardiography Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart and blood vessels. This test shows the size and shape of your heart and the diameter of your aorta or other blood vessels. (The aorta is the main artery that carries oxygen-rich blood to your body.) Echo also shows how well your heart's chambers and valves are working. For people who have Marfan syndrome, echo mainly is used to check the heart's valves and aorta. Magnetic Resonance Imaging and Computed Tomography Scans Magnetic resonance imaging (MRI) is a test that uses radio waves and magnets to create detailed pictures of your organs and tissues. Computed tomography (CT) uses an x-ray machine to take clear, detailed pictures of your organs. MRI and CT scans are used to check your heart valves and aorta. These scans also are used to check for dural ectasia, a nervous system complication of Marfan syndrome. Slit-Lamp Exam For this test, an ophthalmologist (eye specialist) will use a microscope with a light to check your eyes. A slit-lamp exam can find out whether you have a dislocated lens, cataracts, or a detached retina. Genetic Testing In general, genetic testing involves blood tests to detect changes in genes. However, because many different genetic changes can cause Marfan syndrome, no single blood test can diagnose the condition. Ghent Criteria Because no single test can diagnose Marfan syndrome, doctors use a set of guidelines called Ghent criteria to help diagnose the condition. The Ghent criteria are divided into major criteria and minor criteria. Sometimes genetic testing is part of this evaluation. Major criteria include traits that are common in people who have Marfan syndrome. Minor criteria include traits that are common in many people. Doctors use a scoring system based on the number and type of Ghent criteria present to diagnose Marfan syndrome. Talk with your doctor about which traits you have and your likelihood of having Marfan syndrome.
Source: NHLBI