Understanding Marfan Syndrome

Marfan syndrome is a genetic disorder affecting the body's connective tissue—the strong, flexible material that supports and holds together organs, bones, and blood vessels1. The condition is caused by a mutation in the FBN1 gene, which holds the instructions for making a protein called fibrillin-11. This protein is a key building block for the elastic fibers within connective tissue1. When fibrillin-1 is defective, these fibers become weak, leading to a wide range of health issues across multiple body systems1.

Because connective tissue is found everywhere, the effects can be widespread and vary greatly from person to person. The most commonly affected areas include:

• The Skeleton: People with Marfan syndrome are often tall and thin with unusually long arms, legs, fingers, and toes2. They may also have a curved spine (scoliosis) or a breastbone that sinks in or protrudes2.
• The Eyes: Weakened ligaments can cause the lens of the eye to shift out of place (ectopia lentis), leading to vision problems.
• The Heart and Blood Vessels: The most serious complications involve the aorta, the main artery carrying blood from the heart. The weakened aortic wall can stretch and enlarge, increasing the risk of a life-threatening tear.

About 75% of individuals inherit the syndrome from a parent3. For the other 25%, it results from a new, spontaneous gene mutation3.

The Aorta: The Primary Cardiovascular Risk in Pregnancy

For a woman with Marfan syndrome, pregnancy places significant stress on the cardiovascular system, making the aorta the primary area of concern. The natural increase in blood volume and heart rate required to support a growing baby can dangerously strain an already weakened aortic wall.

Management and monitoring of this risk are critical before and during pregnancy3.

• Aortic Dilation and Dissection: The main dangers are the progressive widening (dilation) of the aorta or a sudden tear in its inner wall (dissection). A dissection is a medical emergency that can be fatal for both mother and baby3.
• Pre-Conception Screening: Before pregnancy, a cardiologist must use an echocardiogram to measure the aortic root. If the diameter is greater than 4.0 to 4.5 cm, the risk of dissection is considered very high, and pregnancy is often strongly discouraged.
• Hormonal Effects: Pregnancy hormones like relaxin and progesterone naturally soften connective tissues to prepare the body for childbirth3. Unfortunately, these hormones can also further weaken the fragile tissue in the aortic wall, making it more susceptible to stretching and tearing.

Obstetric and Musculoskeletal Challenges

Beyond the critical aortic risks, pregnancy with Marfen syndrome presents other physical challenges due to the underlying weakness in connective tissue.

• Pelvic Girdle Pain: The hormone relaxin, combined with pre-existing joint hypermobility, can cause severe pain and instability in the pelvic joints. This condition, known as symphysis pubis dysfunction, can make walking and other daily movements extremely difficult2.
• Preterm Labor and Planned Delivery: Weakened connective tissue in the cervix may increase the risk of it shortening or opening too early, leading to preterm labor. To protect the mother's aorta from the strain of labor, a planned delivery, often via Cesarean section, is typically recommended to avoid the sharp blood pressure spikes associated with pushing3.
• Anesthesia Complications: Many individuals with Marfan syndrome have dural ectasia—a stretching of the membrane surrounding the spinal cord. This can make it difficult for anesthesiologists to correctly place an epidural or spinal block, potentially affecting how well the anesthetic works and requiring adjustments to ensure effective pain relief1.

Fetal and Neonatal Considerations

When a parent has Marfan syndrome, medical care extends to the baby, beginning from birth, to address the possibility of inheritance.

• Genetic Inheritance: As an autosomal dominant disorder, there is a 50% chance with each pregnancy that the child will inherit the FBN1 gene mutation from the affected parent3. Genetic counseling can help prospective parents understand these odds and explore testing options3.
• Newborn Evaluation: Immediately after birth, at-risk newborns undergo a thorough physical examination to look for early signs of the syndrome, such as long fingers and toes or a high-arched palate. A pediatric echocardiogram is essential to check the baby’s aorta and heart valves.
• Long-Term Management: If a diagnosis is confirmed, a long-term, multidisciplinary care plan is established immediately3. This proactive approach involves regular monitoring by specialists—including a cardiologist, ophthalmologist, and orthopedist—to manage health issues as the child grows and prevent future complications3.

Managing Pregnancy: The Importance of a Multidisciplinary Team

A safe pregnancy with Marfan syndrome depends on the collaborative expertise of a specialized healthcare team that works together to manage risks for both mother and baby3.

• Maternal-Fetal Medicine (MFM) Specialist: This high-risk obstetrician acts as the team coordinator, overseeing the overall health of the mother and fetus3. The MFM specialist develops the monitoring schedule and creates the safest possible birth plan3.
• Cardiologist: This expert is crucial for monitoring the mother's aorta with frequent echocardiograms3. They also manage blood pressure with pregnancy-safe medications to reduce stress on the aortic wall and provide critical input on the timing and method of delivery3.
• Anesthesiologist: This specialist creates a tailored pain management plan for delivery3. A pre-delivery consultation is vital to assess for challenges like dural ectasia and determine the safest method of anesthesia, whether it be regional or general3.

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