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Pregnancy and Marfan’s Syndrome: Cause, Risk Factors, Complication, Diagnosis, and Treatment

Creator: Dr. Mansimranjit Kaur Uppal
Published: 2023-05-04T17:52:33

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Marfan’s syndrome is a genetic disorder. Pregnancy with Marfan’s syndrome poses many challenges to the doctor and patient. Read more in the article below.

Written by

Dr. Mansimranjit Kaur Uppal

Medically reviewed by

Dr. Arjun Chaudhari

May 4, 2023

November 29, 2023

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Contents

What Are the Causes of Marfan’s Syndrome?
What Is the Risk for a Pregnant Woman With Marfan’s Syndrome?
What Are the Fetal Risks and Associated Complications?
How Is Marfan’s Syndrome Diagnosed in a Pregnant Woman?
How Is Aortic Dissection Diagnosed in a Pregnant Patient With Marfan’s Syndrome?
What Is the Treatment for Marfan’s Syndrome in a Pregnant Patient?
What Are the Pregnancy Considerations in Women With Marfan’s Syndrome?

Introduction

Marfan’s syndrome (MFS) is an autosomal dominant condition with many symptoms. It particularly involves the skeletal system, eyes, heart, blood vessels, and other organs. It affects both males and women equally. However, pregnant women with MFS are at an increased risk of complications. Hence, a systematic approach is required to manage it effectively with minimal maternal and fetal difficulties.

What Are the Causes of Marfan’s Syndrome?

Marfan’s syndrome is caused due to a gene mutation (FBN1). The affected gene helps control the formation of fibrillin, a protein that makes the connective tissue elastic and strong. Hence, the mutation results in an abnormal connective tissue structure. If the aorta (the main artery carrying blood to the whole body) gets affected, it can become fatal.

What Is the Risk for a Pregnant Woman With Marfan’s Syndrome?

Pregnancy is an emotional course for a woman. Moreover, the body is already undergoing various dynamic physical changes. Some examples are increased blood volume, blood pressure, heart rate, and hormonal variations. As a result, pregnant women with Marfan's syndrome are at an increased risk of aortic dissection (AoD), a tear in the inner layer of the major artery supplying the whole body. There are two types of AoDs:

Type A AoD: The tear is in the upper part of the aorta, where it exits the heart. This type is more dangerous and common.
Type B AoD: A tear in the aorta's lower part.

Pregnant women with aortic root diameters of more than four centimeters (cm) are at a greater risk of developing AoD than those with less than four cm. AoD mostly occurs in the third trimester of pregnancy or after delivery. It is an emergency state requiring immediate treatment. Type A AoD is an extremely dangerous condition. Other risks include arrhythmias, lung edema, and myocardial infarction.

What Are the Fetal Risks and Associated Complications?

The chances of transmitting MFS to the child are about 50 %. Due to a different clinical presentation in each pregnancy, the outcome can be mild, moderate, or severe. The mother with AoD increases the risk to the fetus. Complications such as premature birth, growth retardation in the womb, blood clotting, or even newborn death are present. After childbirth, blood tests are important to determine the genetic cause. Parents should do periodic follow-ups after birth to monitor signs of MFS.

How Is Marfan’s Syndrome Diagnosed in a Pregnant Woman?

Before planning a pregnancy, the couple should consult a gynecologist. A complete medical and family history is pertinent. Genetic testing is used for MFS diagnosis during pregnancy. Techniques, namely, chorionic villus sampling and amniocentesis, are frequently employed.

How Is Aortic Dissection Diagnosed in a Pregnant Patient With Marfan’s Syndrome?

MFS is unsuspected in some cases if AoD is present. Aortic size measurement can be assessed before conception using ultrasound, magnetic resonance imaging (MRI), computed tomography (CT), Transthoracic echocardiography (TTE), and Transesophageal echocardiography (TEE). The concerned doctors must be aware of AoD. It presents with severe chest, back, and abdominal pain, vomiting, and sudden loss of consciousness. Therefore, it becomes crucial for the emergency physician to diagnose and manage it promptly for an event-free pregnancy. Various diagnostic tests are available:

Ultrasound: Ultrasound is the most effective and readily available diagnostic method for AoD detection during the third trimester. In an emergency, it helps in a quick intervention.
TTE: It should be the first imaging technique to view the aorta in patients with chest pain. It allows a clearer picture of the chest cavity. Sometimes, TTE is combined with CT for better visualization.
TEE: This method is the gold standard in diagnosing AoD. It uses ultrasound technology to assess AoD. However, in a critical situation, it is not feasible.
Chest X-Ray: It shows abnormalities in about 85 % of the cases.
Electrocardiogram (ECG): Abnormal ECG is found.

What Is the Treatment for Marfan’s Syndrome in a Pregnant Patient?

Conservative treatments aim at alleviating the symptoms. These include pain medications, physical therapy, and many lifestyle modifications. In a pregnant woman, the following treatments are paramount:

Medications: Beta-blockers, namely Propranolol, Metoprolol, and Atenolol, are used. Atenolol is the drug of choice as it is safer and has few side effects. Doses up to 10 mg (milligram) four times daily are effective. Angiotensin-converting enzyme (ACE) inhibitors (Captopril, Enalapril) and angiotensin receptor blockers (ARBs), such as Losartan, are contraindicated in pregnancy due to the possibility of fetal toxicity.
Surgical Therapy:

Before Pregnancy: Surgery is controversial according to various countries’ cardiology societies. In addition, strict guidelines regarding prophylactic aortic root replacement suggest no safe aortic root diameter in pregnancy. Hence, women with MFS with an aortic root diameter of more than 4.5 cm should contemplate pregnancy.

During Pregnancy: Heart surgery for AoD poses an increased threat to the mother and fetus. Surgery in high-risk cases has presented mixed results. Emergency surgery, if needed, should be done in a hospital with a neonatal intensive care unit (NICU). Elective surgery for aortic repair should be performed a few days post-delivery. Recently, surgery has been initiated for type B AoD patients in MFS with good results.

What Are the Pregnancy Considerations in Women With Marfan’s Syndrome?

MFS is managed in a pregnant woman according to the stages of pregnancy. Therefore, doctors should start management ideally before conception.

Before Pregnancy: An interprofessional team comprising cardiologists, genetic specialists, and gynecologists must be approached before pregnancy planning. In addition, women should be given counseling regarding pregnancy-related issues and AoD. TEE is beneficial in assessing heart valve defects in this stage.
During Pregnancy: Evaluation of aortic root diameter and heart function must be done. Although rare, if the aortic root diameter is significantly increased, it threatens both the mother and fetus. In such cases, patients can choose to terminate the pregnancy. TTE for aortic size should be done. Beta-blockers are safe and useful for controlling blood pressure and heart rate. Metoprolol is preferred. Patients on beta-blocker therapy are at an increased risk of gestational diabetes. Hence, doctors should properly manage it. In addition, fetal ultrasound is a must to rule out congenital disabilities and check fetal growth.
Delivery: A rule of thumb is to continue with normal delivery if the aortic diameter is less than four cm. An elective cesarean section with epidural anesthesia is recommended if the aortic diameter is 4 to 4.5 cm or more than 4.5 cm. The epidural anesthesia keeps blood pressure under control. A quick diagnosis and management of post-partum bleeding are important.
Post-Delivery: Patients are at a higher risk for dissection post-delivery. For high-risk patients, weekly and for low-risk, monthly follow-ups for up to six months are advised. Immediate future pregnancies are not advocated. Beta-blockers should be continued for the lactating phase.

Conclusion

Pregnant women with MFS are at major risk due to the added stress on the heart. Careful planning and consultation with the gynecologist, geneticist, and cardiologist ensure a fruitful and positive outcome. Prior counseling about AoD and cautious surveillance of both mother and fetus is of utmost importance.

Frequently Asked Questions

1. Can the Marfan Syndrome be Passed On?

Marfan syndrome is a genetic ailment brought on by mutations in the FBN1, TGFBR1, or TGFBR2 genes, not a contagious illness. Most of the time, these mutations are passed down from one's parents, while spontaneous mutations can occasionally happen. There is a 50 % probability that each kid born to a person with Marfan syndrome will inherit the defective gene. As a result, rather than being spread by touch or exposure, Marfan syndrome is thought to be an inherited disorder. Marfan syndrome sufferers can enjoy happy lives with proper medical treatment and early diagnosis.

2. Who Are Most Susceptible to Marfan Syndrome?

Since Marfan syndrome is often inherited autosomally dominantly, persons with a family history of the disorder are most at risk. Accordingly, each kid of a parent who has Marfan syndrome has a 50 % chance of inheriting the faulty gene and getting the condition. However, in people with no known family history, Marfan syndrome can also develop spontaneously due to novel mutations. Therefore, for an accurate diagnosis and treatment, anybody with Marfan syndrome symptoms or concerns, especially those with afflicted family members, should seek medical assessment and genetic testing.

3. Is There Another Method That Marfan Syndrome Is Passed Down to Another Generation?

Marfan syndrome is normally handed down from one generation to the next by the inheritance of a defective gene from an afflicted parent in an autosomal dominant inheritance pattern. However, Marfan syndrome can occasionally develop spontaneously in people without a family history of the disorder. These sporadic mutations can happen in the TGFBR1 or TGFBR2 genes, FBN1 or TGFBR1. Despite the prevalence of familial inheritance, occasional occurrences highlight the value of genetic testing and medical examination for anybody showing signs of Marfan syndrome, even if there is no known family history.

4. Can Someone With Marfan Syndrome Lead a Normal Life?

Yes, people with Marfan syndrome may have reasonably normal lives with the right medical care. The heart, blood vessels, bones, and joints are among the connective tissues in the body that are most severely impacted by the illness. Many people may enjoy happy and fruitful lives with early diagnosis and thorough care, including frequent monitoring and treatment by medical specialists specializing in Marfan syndrome. Cardiovascular problems, bone disorders, and other associated health conditions are frequently managed as part of treatment. To improve their quality of life and reduce potential consequences, people with Marfan syndrome should heed the advice of their medical team.

5. How Long Does a Marfan Patient Live?

Depending on the severity of their illness and the success of medical treatment, people with Marfan syndrome may live shorter or longer lives. Many people with Marfan syndrome can live normal or almost normal lives with the right medical care, which includes frequent cardiovascular monitoring and medication. The results for persons with the illness have improved due to developments in medicine and therapy. However, people with Marfan syndrome must collaborate closely with their medical professionals to address any unique health issues and guarantee they get the treatment they need all their lives.

6. Is Marfan Syndrome Treatable?

Since Marfan syndrome is a genetic illness brought on by abnormalities in particular genes that impact the body's connective tissues, there is no known treatment. Nevertheless, the illness may be controlled and treated to raise the person's quality of life and lower the likelihood of problems. A multidisciplinary approach is often used in treatment, including routine medical checkups, drugs to address cardiovascular problems, orthopedic procedures for skeletal abnormalities, and lifestyle changes. The objective is to treat the Marfan syndrome symptoms and health hazards, enabling people to live as normally and healthily as possible. For successful treatment, early diagnosis and continuous medical care are essential.

7. What Are Some Potential Marfan SyndromeTreatments?

Typical therapies and management techniques include:
- Doctors may give beta-blockers and other drugs to treat cardiovascular conditions, including hypertension and aortic enlargement.
- Aortic valves or portions of the aorta that are weak or swollen may require surgery to be repaired or replaced.
- Orthopedic therapies can assist control of skeletal issues, including scoliosis or joint dislocations. These procedures include bracing and surgery.
- To lower the risk of cardiovascular issues, lifestyle adjustments may include giving up smoking, adopting a heart-healthy diet, and avoiding physically demanding activities.
- Ongoing medical observation is crucial for early detection and treatment of any problems.

8. How Common Is Marfan Syndrome?

As a hereditary illness characterized by anomalies in the body's connective tissues, Marfan syndrome is not considered normal in this sense. It is not a usual or regular ailment that one would anticipate seeing among the broad populace. Nevertheless, it is important to remember that people with Marfan syndrome may have happy lives with the right medical care and support. Although the disease makes individuals different regarding their medical requirements, it does not lessen their worth or capacity to realize their objectives. People with Marfan syndrome must be accepted, educated, and given access to quality healthcare to have healthy, fulfilling lives.

9. When Should Marfan Syndrome be Suspected?

Unusual height, lengthy limbs, hypermobile joints, a bent spine (scoliosis), chest deformities (pectus excavatum or carinatum), vision abnormalities (such as lens dislocation or myopia), and cardiovascular disorders (such as aortic enlargement or mitral valve prolapse) may be among them. It's critical to speak with a healthcare provider, preferably a geneticist or a doctor acquainted with the disease, for a thorough assessment of a family history of Marfan syndrome or if several of these symptoms are present. Effective care and lowering the risk of problems related to Marfan syndrome depend on early identification and intervention.

10. What Bodily Type Does a Marfanoid Have?

Even though a person may not have Marfan syndrome, the term "Marfanoid body shape" is frequently used to describe the physical traits or features connected to the condition. Tall stature, long limbs, joint hypermobility, and a slim physique are characteristics of this body form. These characteristics can occur spontaneously in some persons without Marfan syndrome, although they are frequently more noticeable in those with the disease. Marfan syndrome may be suspected in people with a Marfanoid body form, but a definitive diagnosis requires a full medical examination, including genetic testing and clinical examinations.

11. Can the Marfan Condition Be Cured?

Since Marfan syndrome is a genetic disorder brought on by mutations in certain genes in charge of producing connective tissue, it cannot be reversed or treated. However, many related symptoms and consequences may be effectively controlled and managed with the right medical therapy and lifestyle changes. This includes, among other things, taking care of cardiovascular disorders, bone irregularities, and eye difficulties. The quality of life for people with Marfan syndrome has much improved, and the likelihood of major sequelae has decreased, largely due to early identification and constant medical care.

12. What Should Someone With Marfan Avoid?

For those with Marfan syndrome, playing high-impact or contact sports can be dangerous owing to the possible pressure on the cardiovascular system and the risk of injury.
- These behaviors raise the risk of cardiovascular problems by putting additional strain on the heart and blood vessels.
- Without correct instruction, carrying large things can strain the spine and aggravate bone problems in people with Marfan syndrome.
- A heart-healthy diet is crucial to control blood pressure and lower the risk of aortic problems.
- To properly manage Marfan syndrome, it is essential to maintain regular medical monitoring and follow all recommended therapies.

13. What Age Is the Diagnosis of Marfan Syndrome?

Marfan syndrome is often diagnosed at different ages depending on when symptoms first appear. Some people may be diagnosed in their early years or throughout their teens when the physical characteristics and health problems linked to the condition become apparent. However, in some circumstances, particularly when symptoms are milder, it may only be discovered in maturity. Effective care and lowering the risk of complications depend on early diagnosis. It is critical to seek medical assessment and genetic testing for a conclusive diagnosis if there is a family history of Marfan syndrome or if one has concerns about the health of a loved one and believe they may have the disorder.

14. Are There Any Early Indicators of Marfan Syndrome?

Yes, early indicators of Marfan syndrome can cause people and medical experts to want to look into it more. Typical early warning signs include:
- Doubts could be raised if a child grows much taller than their classmates.
- Excessive joint flexibility might cause dislocations or joint discomfort.
- Early eye-related symptoms might include lens displacement and myopia (nearsightedness).
- Early skeletal symptoms may include scoliosis (spinal curvature) or chest abnormalities (pectus excavatum or carinatum).
- A family history of Marfan syndrome or other connective tissue diseases might also raise concerns.

Sources

Dr. Arjun Chaudhari

Obstetrics and Gynecology

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