Marfan syndrome has many signs and symptoms, but of them all, the most serious are associated with the cardiovascular system.
Such symptoms are undue fatigue, shortness of breath, heart palpitations, racing heartbeats. Also, angina pectoris with pain radiating to the back, shoulder or arm. Cold arms, hands, and feet may also be linked to Marfan syndrome, as a result of inadequate circulation.
People with Marfan syndrome may also have a heart murmur, an abnormal EKG reading, and symptoms of angina may indicate that further investigation may be needed.
Other serious signs may be seen in those who have regurgitation from prolapse of the mitral or aortic valves (which control the flow of blood through the heart), resulting from cystic medical degeneration of the valves. These symptoms are common in people with Marfan syndrome.
The most serious signs and symptoms are also the most deadly. The leading cause of concern is a dilated aorta, or aortic aneurysm. It is often the case that no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection. This is a serious and life threatening surgical emergency. An aortic dissection is most often fatal and presents with pain radiating down the back, and is often described as a tearing sensation.
With Marfan syndrome, there is an increased incidence of dehiscence or prosthetic mitral valve. It is important, and care should be taken to attempt repair of damaged heart valves, rather than replacement.
It is very important to be routinely monitored with Marfan syndrome, but during pregnancy even in the absence of preconception cardiovascular abnormality, women with Marfan syndrome are at an increased and significant risk of aortic dissection, which is often fatal even in situations when rapidly treated by medical professionals. Women affected with Marfan syndrome should be closely monitored and receive a thorough medical examination and assessment prior to conception, and echocardiography should be performed every 6 to 10 weeks during pregnancy, in order to assess the mothers aortic root diameter. It is thought that for most women, safe vaginal delivery is possible, but each women should make this decision with her medical team.
It is recommended that a person with Marfan syndrome be regularly examined by having a checkup and echocardiogram. It is also advised to receive a yearly CT scan or MRA.
If a person with Marfan syndrome should develop pain in the chest, back or abdomen, it is important to immediately consult with your doctor or visit an emergency room.
Some people with Marfan syndrome are required to take medicine for their heart valve or other medical issues.
It is common for a person with Marfan syndrome to have surgery in order to replace or repair valves, or to treat issues related to an aortic dissection or aneurysm.
Wearing a medical bracelet is advised.