By Dr. Melissa L. Russo

Marfan syndrome is a connective tissue disorder that has effects on the heart, blood vessels, ligaments and bones. The aorta is the main artery that brings blood from the heart and carries blood to the entire body. People with Marfan syndrome and related connective tissue disorders can develop an aneurysm or dilation in the aorta; this can weaken the vessel wall and potentially can lead to a tear in the wall or a dissection. An aortic dissection can have catastrophic effects and it is the leading cause of death in individuals with Marfan syndrome. 

The decision about whether or not to pursue a pregnancy when a woman has a diagnosis of Marfan syndrome is a complicated and individualized decision.

In general, the steps to a successful pregnancy are:

• Plan Ahead. Make sure you meet with your doctors and get necessary tests prior to becoming pregnant so you can know the risks you are taking with a pregnancy in advance.
• Assemble Your Team. Identify a tertiary care center (a hospital with specialized healthcare) that has a cardiovascular surgeon and cardiologists who are familiar with Marfan syndrome as you want to deliver at a hospital with these services available. During pregnancy, you will need a high risk obstetrician, cardiologist, anesthesiologist, nursing, and neonatologist.
• Follow Directions for Consistent Care. Getting ongoing care includes going to all your appointments, getting serial echocardiograms to monitor your aorta, and following a multi-disciplinary plan for delivery that has been coordinated by your team are key to having a good pregnancy outcome for yourself and your baby.

Here are some of the most common questions regarding pregnancy and family planning.

What effect does pregnancy have on my body and my health if I have Marfan syndrome?

Pregnancy places additional stress on the aorta, blood vessels, and heart as well as increases the amount of blood being pumped through the body. There are also thought to be effects on the blood vessels from hormones that are elevated during pregnancy. Pregnancy and the postpartum period are higher risk times for aortic root growth, aortic aneurysm, and dissection in women with Marfan syndrome. A majority of women will have successful pregnancies; however, there is this risk for aortic dissection. 

Pregnancy also puts additional strain on joints and can increase joint pain, especially in the lower back and pelvis. 

Am I considered a high-risk pregnancy because I have Marfan syndrome?

Yes, there are significant complications to the maternal heart and blood vessels (aortic dissection) that can occur in pregnancy.

Additionally, women can have pregnancy complications of:

• Heart arrhythmias in labor
• Preterm birth
• Fetal growth restriction or smaller babies
• Spontaneous collapsed lung
• Blood clots
• Anesthesia complications

Because of the potential complications, it is important that women with Marfan who are pregnant have a high-risk obstetrician or maternal-fetal medicine specialist as their doctor.

What are the risk factors for aortic dissection in pregnancy?

• The size of the aorta at the root prior to pregnancy is important in determining risk for aortic dissection during pregnancy. Women with aortic root size of 4 cm or greater have 10% risk of aortic dissection in pregnancy. Women with aortic root less than 4 cm have a risk for aortic dissection of 1-2%. It is still controversial, but some experts in the field recommend that women with aortic root greater than 4 cm consider aortic root replacement prior to pregnancy to avoid the risk of aortic root dissection.
• Aortic root replacement is protective against a dissection at the root of the aorta, but women who have had an aortic root replacement are at a higher risk of having aneurysm or dissection in the lower part of the aorta during pregnancy.
• The rate of change in size of the aorta in pregnancy has also been determined to be a risk factor for aortic dissection. If the aortic root grows quickly in pregnancy, there is a higher risk for aortic dissection.
• The number of pregnancies a woman with Marfan syndrome has is another factor that has been shown to increase the risk for aortic dissection; in other words, the risk for aortic dissection increases which each subsequent pregnancy.

What should I do and who should I see prior to becoming pregnant?

• Have an exam by your doctor (clinical geneticist, family doctor, or internist).
• Meet with a high-risk obstetrician (or maternal-fetal medicine specialist) prior to pregnancy.
• Visit a cardiologist and have an echocardiogram and CT or MRI to examine your aorta, aortic root size, and the rest of your blood vessels.
• Have an evaluation of your spine by MRI or CT to determine if you have dural ectasia, a condition where the sac around the spinal cord balloons out. This is not harmful during pregnancy, but, if present, may influence whether or not an epidural will be effective for pain relief during delivery.
• Meet with a genetic counselor and discuss the chance your baby will also have Marfan syndrome. The genetic counselor can also explain genetic testing options that are available prior to and during pregnancy.

What medications should be avoided during pregnancy?

Some medications can have harmful effects on the fetus, especially if taken during the first trimester of pregnancy. Thus, it is important to meet with your doctor and have a plan for an alternative medication while you are attempting to become pregnant. Medications that women with Marfan frequently take that should be avoided during pregnancy include:

• Angiotensin-receptor blockers (such as Losartan) and angiotensin-converting enzyme inhibitors (such as enalapril or captopril)
• Warfarin (Coumadin)

What medications are safe during pregnancy?

Women with Marfan syndrome or other related connective tissue disorders are recommended to be on beta-blocker during pregnancy to lower the risk of aortic root enlargement during pregnancy. Beta-blockers are relatively safe during pregnancy; however, the growth of the baby should be monitored on these medications. 

Do I have to have a C-section because I am high-risk?

Whether the optimal method for delivery in women with Marfan syndrome is vaginal or C-section is not known. Most women who have an aortic root less than 4 cm can have a vaginal delivery; however, there are precautions to avoid increased stress to the aorta, heart, and blood vessels during labor. These include:

• Slow epidural to avoid pain as this can elevate blood pressure and heart rate.
• Continuous monitoring of the heart rate (cardiac telemetry) to watch for arrhythmias.
• Assisted vaginal delivery with forceps or vacuum to avoid “pushing” because this can put further pressure on the aorta and blood vessels..

Women with aortic root of 4 cm or greater are recommended to have scheduled C-section in attempt to avoid risks of aortic dissection. 

Are there any risks to breastfeeding my baby?

There is an ongoing research study examining if breastfeeding puts a woman with Marfan at greater risk for an aortic dissection in the postpartum period. In a mouse model, there is evidence that breastfeeding does increase the risk for aortic dissection in the postpartum period. Based on the current information, breastfeeding is not contraindicated; however, if one chooses to breastfeed, they should have close surveillance of their aorta by their cardiologist in the postpartum period.

What options are available if I want to become a parent but I think pregnancy is too risky?

There are options available to women who want to become a parent, but decide that pregnancy is not the right option for them. One of these options is surrogacy in which your own egg and sperm or donor egg and sperm are used and the pregnancy is carried in another person. Another option is adoption.      

Is there a way to test my baby prior to birth to find out if he or she has Marfan?

When one parent has Marfan syndrome, there is a 50% chance of passing this on to a baby and, if both parents are affected, there is a 75 % chance of passing this on to a baby. In order to perform testing, the affected parents must have had genetic testing to know their mutation.

There are two ways currently to test to know if a child has Marfan syndrome:

• In-vitro fertilization with pre-implantation genetic diagnosis. This testing involves a fertility specialist and is done on an embryo prior to it being implanted into the uterus.
• Prenatal testing. Chorionic villus sampling or amniocentesis tests can be done on fetal cells in the first or second trimester and there is a small risk of loss of the pregnancy with these procedures.

For more information about pregnancy, please visit the Foundation website. The Foundation offers a free resource on family planning and pregnancy that provides additional information.

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