Marfan syndrome – Symptoms, Causes, Treatments and more

Overview 

Marfan syndrome, a hereditary condition, affects the connective tissue that supports the body and its organs.

The body is held together by connective tissue, which also aids in its growth and development. Since connective tissue covers every part of the body, Marfan syndrome and related conditions can have an impact on the heart, blood vessels, bones, joints, eyes, skin, and lungs, among other body organs. 

In extreme instances, the syndrome’s side effects can be fatal and can harm the aorta or heart valves without affecting cognition. It is estimated by NCBI that 1 in 5000 persons will be affected by Marfan syndrome.

While most Marfan syndrome cases are hereditary, a small number are caused by spontaneous gene changes with no known family history. 

Depending on which area is damaged and how severely, Marfan syndrome can range from moderate to severe, and it may get worse as people age. Patients with Marfan syndrome have an average life expectancy of roughly 70 years, despite the significant risks associated with heart and blood vessel issues.

Heart problems are common with Marfan syndrome. It’s possible that the aorta, the body’s main artery, is more dilated (widened) than usual. 

Under pressure, such as during labour or severe exercise, the disease can cause the aorta to rip or bulge. This may raise the likelihood of an aneurysm or result in bleeding into the multiple layers of the aorta. Blood may leak backwards and put additional stress on the heart if the heart valves are compromised. 

The risk of Marfan syndrome is equal for both men and women, as well as for many ethnic groups. Early and precise diagnosis is crucial. Although there is no known treatment for Marfan Syndrome, its symptoms can be managed with optimal care.

Causes of Marfan syndrome 

• The autosomal dominant gene indicates that the disease can be caused by a single copy of the faulty gene. FBN1, a defective gene, is found on chromosome 15 or in some cases, a second gene on chromosome 5 is also involved. 
• Most individuals receive the gene from one of their parents. A Marfan syndrome patient’s chance of passing it on to each of their offspring is 50%.
• The mutant gene impairs fibrillin production, which is a component of connective tissue. This tough, elastic substance connects several bodily parts and offers structural support to many human tissues. 
• The weakening connective tissue in Marfan syndrome damages bones, heart valves, tendons, ligaments, cartilage and major blood vessels.

Marfan syndrome symptoms 

Marfan syndrome symptoms can vary from person to person. The symptoms might vary greatly among individuals, from mild in some to severe in others. With time, the symptoms may progressively deteriorate. 

The following signs could manifest in Marfan syndrome patients.

• Weakened wrist
• Stretch marks
• Flexible joints
• Stomach ache
• Tall, lean frame
• Curved spine
• Bent shoulders
• Flat foot
• Headaches
• A protruding chest
• Narrow and long face
• Joint, muscle or bone discomfort
• Leg numbness and low back discomfort
• Longer fingers, toes, arms and legs compared to the rest of the body
• Breathing difficulties brought on by changes to the heart or lungs
• Alterations in vision, such as excessive nearsightedness and blurred vision.
• The sensation that the heart is fluttering, skipping beats or beating quickly or forcefully

Marfan syndrome risk factors 

All genders are equally susceptible to Marfan syndrome.

The greatest risk is having a parent with Marfan syndrome because it is a genetic disorder.

Diagnosing Marfan syndrome 

Patients meeting the diagnostic criteria will require gene testing. Cardiologists, ophthalmologists, orthopaedic surgeons and geneticists must conduct a coordinated evaluation to provide a definitive diagnosis.

Several tests are used to diagnose the disorder, including medical checkups and family history.

Examinations include,

• Echocardiography
• An x-ray of the skeleton
• An eye exam with a slit lamp to look for misaligned lenses
• Genetic comparison

A small percentage of people once believed to have Marfan syndrome really had the related but different disorder known as Loeys-Dietz syndrome. While Loeys-Dietz syndrome and Marfan syndrome have many characteristics, the former is characterised by more severe blood vessel disease and does not cause the same ocular issues.

Treatment for Marfan syndrome 

The various Marfan syndrome consequences must be addressed separately because symptoms change from person to person. Once the condition has been identified, a medical professional will closely monitor the body systems that are susceptible to developing diseases.

Beta-blockers 

Beta-blockers (propranolol and atenolol) are prescribed to Marfan syndrome patients to slow the heart rate and the force of contractions. This reduces the strain on the heart and lowers the risk of widening and rupturing of the aorta.

To reduce the rate of aortic root enlargement, angiotensin II receptor blockers, such as losartan, may be administered along with beta-blockers.

Regular echocardiograms are used to check on the aorta and heart valves. Surgery can be used to replace a damaged portion to alleviate valve issues and aortic root widening. The surgeries usually have positive outcomes and save lives. 

Pregnant women with Marfan syndrome need to be regularly monitored due to the significant load pregnancy places on the heart.

Antibiotics 

Antibiotics are recommended when a person has a malfunctioning heart valve or replacement heart valve to prevent infection.

Non-strengthening exercises like jogging, cycling, or walking are recommended, which can be done at a patient’s own pace. High-intensity exercises and sports are not advisable.

To lower blood pressure and prevent the connective tissue of the cardiovascular system from being stretched, it is recommended to avoid drugs like decongestants and foods containing caffeine.

It’s crucial to keep in mind that prompt diagnosis and care can avert much more severe problems. 

Braces, Physical therapy 

Physical therapy and braces are used to correct spinal flexion. Surgery is advised for more severe scoliosis to stop advancement and may likely restore the spine to its proper shape.

Prevention of Marfan syndrome

There are no proper prevention techniques for Marfan syndrome. However, couples who know there is a possibility of this syndrome and are contemplating pregnancy should speak with a genetic counsellor. 

About 25% of people with Marfan Syndrome experience this issue due to spontaneous gene mutation. As a result, people are more likely to get the disease later in life, and since all body organs are at risk, this can shorten lifespan. 

Managing to live with the sickness will help. Before engaging in any physical activity, one must speak with their doctor.

Complications of Marfan syndrome 

The following are the complications of Marfan syndrome (MFS) as stated by an NCBI article titled ‘Marfan Syndrome’. Marfan syndrome affects multiple systems, including,

• Scoliosis
• Aortic aneurysm
• Retinal detachment, glaucoma and cataract
• Pneumothorax
• Lens subluxation (ectopia lentis)
• Inguinal hernias
• Mitral valve prolapse
• Mitral regurgitation
• Regurgitation of the aorta

Lifestyle changes 

Being knowledgeable about Marfan syndrome and its management is crucial for patients with the disorder. Making lifestyle decisions that reduce the stress on a person’s body can improve their general well-being and quality of life. 

A healthcare expert can advise the patient on appropriate lifestyle recommendations.

Lifestyle changes may include the following forms, depending on which body areas are affected and to what extent.

• Avoiding contact sports
• Engaging in mild and moderate exercises
• Avoiding isometric exercises, such as weight training or moving heavy things.
• Counselling-A woman with a dilated aorta needs specialised counselling regarding the higher risks involved while considering pregnancy due to the strain this major artery is under and the potential of rupture, especially during childbirth. Prenatal and repeated cardiac evaluations are advised during pregnancy.

Conclusion 

Marfan syndrome is a chronic hereditary condition with no known treatment or cure. Life-threatening complications such as aortic aneurysms and dissections, retinal detachment, aortic regurgitation, and pectus deformities can occur in certain patients.

The key to managing Marfan syndrome is careful monitoring and follow-up for additional issues. To give the patient the best possible standard of care, the interdisciplinary approach is advisable.

An interdisciplinary team involving the patient’s physician, nurse practitioner, and appropriate referrals to a cardiologist, cardiothoracic surgeon, ophthalmologist, and orthopaedics is essential to manage Marfan syndrome and its associated problems. 

Care coordination between the physicians and nurses caring for these patients should occur so that they may swiftly report any potential issues.

Physical therapists should help individuals with MFS choose appropriate exercise regimens which shouldn’t contain strenuous exercises.

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