What is Marfan syndrome during pregnancy?
Marfan syndrome (MFS) is a disorder resulting from a defect in connective tissue, due mostly to the presence of a defective form of a protein called fibrillin-1, resulting from a mutation in the FBN1 (also called MFS) gene. However, mutations of other genes also are associated with MFS. Connective tissue is affected throughout the body. This can cause problems with joints and eyes and typically causes people with MFS to be tall, with long, lanky limbs and fingers, which has led historians to suspect that certain figures, notably Abraham Lincoln and the pharaoh Akhenaten, suffered from MFS. Most critically, the connective tissue defects of MFS affect the cardiovascular system in very dangerous ways. This can be a particular issue in pregnancy, which produces some of the same cardiovascular complications, due to the hormonal changes and expansion of the volume of blood as pregnancy advances. This causes additional stretching of the aorta (the large artery that carries blood from the hearts left ventricle) and stress on the hearts valves that can add to the risks of complications to which women with MFS are already highly susceptible.
How common is Marfan during pregnancy?
Approximately 1 per every 5,000 people in the United States are affected with MFS, which is inherited as an autosomal dominant condition. This means that females and males have the same chance of inheriting the condition, so the 1 in 5,000 number also applies to pregnancy. Autosomal dominant also means that you can have MFS, even if only one of your parents has the condition.
How is Marfan syndrome during pregnancy diagnosed?
Specialists participating in the workup for MFS include a medical geneticist, a cardiologist and an ophthalmologist, because identifying MFS depends on effects in the cardiovascular system (notably, the aorta, the big artery leading from the hearts left ventricle) and in the eyes. An orthopedic surgeon may also be involved to evaluate skeletal system effects, but its the eye and cardiovascular system that determine the diagnosis. Diagnosis is made using what are called revised Ghent-2 criteria, plus presence of an FBN1 mutation detected in genetic testing, plus presence of thoracic aortic aneurysm (widening/ballooning of the aorta wall) and/or aortic dissection (TAAD; tearing between layers of the aortic wall) and ectopia lentis (EL) (dislocation of the lens of the eye). You would meet the Ghent-2 criteria, if you have any widening of the aorta (aneurysm or simply dilatation, meaning that the vessel is wider than it should be) and the lens abnormality plus MFS in your family history. If you do not have MFS in your family history, then meeting the Ghent criteria means that you have at least a particular amount of aortic dilatation. Dilatation and aneurysm are measured with a technique called echocardiography, specifically in the root of the aorta and other parts of the aorta located in the chest cavity (ascending aorta and aortic arch). EL can be detected by way of examination with a slit lamp.
Does Marfan syndrome cause problems during pregnancy?
A high proportion of cases of MFS are not recognized until pregnancy when cardiovascular changes exacerbate problems, leading to life-threatening complications. The most serious such complication is aortic dissection, in which layers of the wall of the aorta separate, and blood rushes in from the lumen of the aorta, pushing the separation of the layers further along the vessel, like opening a zipper. This can be fatal. Additionally, women with Marfan syndrome may have skeletal problems such as scoliosis (spine curving sideways) and eye problems that pregnancy may exacerbate.
Does Marfan syndrome cause problems for the baby?
The health and life of the fetus are at risk due to the possibility of maternal cardiovascular crises, such as aortic dissection that can cause a sudden drop in blood pressure, causing a lack of blood circulation through the placenta. Additionally, the baby is at risk of having MFS his/herself by receiving a defective copy of the FBN1 gene.
What to consider about taking medications when you are pregnant or breastfeeding:
- The risks to yourself and your baby if you do not treat the MFS
- The risks and benefits of each medication you use when you are pregnant
- The risks and benefits of each medication you use when you are breastfeeding
What should I know about using medication to treat Marfan syndrome during pregnancy?
The main goal of medication for MFS is to mitigate the risk of aortic dissection and aortic aneurysm by reducing the blood pressure. This is done through a variety of tactics, one of which is to slow the heart and reduce the force of each ventricular contraction using a beta-blocker medication, which can be given safely in pregnant women. Another tactic is to block or prevent the blood pressure-raising effect of a hormone called angiotensin II using either an angiotensin-converting enzyme (ACE) inhibitor or an angiotensin receptor blockers (ARB). Still, these medications are contraindicated during pregnancy because they are known to damage the fetal kidney. If needed, however, drugs that lower blood pressure through other mechanisms can be given to replace an ACE inhibitor or an ARB that you have been taking prior to pregnancy.
Who should NOT stop taking medication for Marfan syndrome during pregnancy?
If you are on medication to keep your blood pressure low to prevent aortic dissection, then you cannot stop medication altogether. However, you can be switched to a different class of medication if necessary, for instance, if you are taking an ACE inhibitor prior to pregnancy.
What should I know about choosing a medication for my Marfan syndrome during pregnancy?
It is important to stay in communication with your health care provider as the release of new studies over time can change the outlook on the role of specific medications during pregnancy.
You may find Pregistrys expert reports about the medications to treat this condition here. Additional information can also be found in the sources listed below.
What should I know about taking a medication for Marfan syndrome when I am breastfeeding?
Most beta-blockers and various types of blood pressure-lowering drugs are considered to be safe in nursing mothers. This includes some of the ACE inhibitors, which are contraindicated before you deliver.
What alternative therapies besides medications can I use to treat my Marfan syndrome during pregnancy?
Surgical repair of the root of the aorta or replacement of the aortic valve is an important measure to help prevent aortic dissection and other life-threatening problems. In the case of a thoracic aortic aneurysm, the section of the aorta containing the aneurysm can be replaced by a synthetic tube. Problems related to the displacement of the eye lens can be treated with corrective lenses (glasses or contact lenses) and surgical procedures. Various physical treatments are available for skeletal disorders, such as back braces for scoliosis. Additionally, some women may need to be restricted from physical activities to lower the risks of aortic dissection and rupture of an aortic aneurysm.
What can I
do for myself and my baby when I have Marfan syndrome during pregnancy?
Follow the instructions of your physician. Communicate with your doctors and other healthcare providers regarding any new symptoms that you feel as your pregnancy progresses and regarding any medication side effects.
Resources for Marfan syndrome in pregnancy:
For more information about Marfan syndrome during and after pregnancy, contact http://www.womenshealth.gov/ (800-994-9662 [TDD: 888-220-5446]) or contact the following organizations: