Marfan’s syndrome is a complicated genetic disorder that damages the connective tissue. Those who suffer from this condition will have unnaturally tall, long, thin arms, legs, toes, and fingers. They typically have exceptionally abnormal spines and flexible joints.
The commonly affected organs due to Marfan’s syndrome are the eyes, the bones, the covering of the spinal cord, the lungs, and especially the heart. Approximately, it is estimated that every 1 in around 5,000 to 10,000 individuals is affected by Marfan’s syndrome across the globe. The Marfan syndrome heart risks could be life-threatening if not treated on time. The notable risks of the Marfan syndrome are the aortic aneurysm and mitral valve prolapse. Now, let’s discuss this syndrome, its symptoms, and the available treatment options in detail.
What Is Marfan’s Syndrome?
Marfan’s syndrome is a hereditary condition that is caused by a genetic mutation in the FBN1 gene. The protein that is essential for the strength and flexibility of the connective tissue is called fibrillin-1. This FBN1 gene is responsible for producing fibrillin-1. When this protein production is inadequate or defective, the connective tissues all through the body will become weaker and more flexible than normal, which impacts the overall cardiovascular health.
This syndrome affects anyone regardless of their origin or gender. It is also usually genetic. To be true, if one of the parents has this syndrome, then the chance is relatively high that the child might genetically acquire the disease.
What Are The Symptoms of Marfan’s Syndrome?
The symptoms of Marfan’s syndrome vary based on different factors. For some individuals, this condition is detected during their childhood, while for others, this is detected only in adulthood. Here are the most common symptoms of Marfan’s syndrome:
- Eye Problems: The weakness in the connective tissues leads to early cataracts, retinal detachment, nearsightedness, and also lens dislocation.
- Skin Changes: Though there are no rapid weight fluctuations, stretch marks might appear on the skin.
- Cardiovascular Symptoms: Tiredness, shortness of breath, chest pain, and palpitations are some of the symptoms that show heart involvement.
- Skeletal Features: People who have this symptom usually have long fingers, arms, and legs, and they are abnormally slim and tall. They might have pectus carinatum (a chest that sticks out), pectus excavatum (a chest that sinks in), overly flexible joints, or scoliosis (a spine that is overly curved).
- Facial Features: A high-arched palate, a narrow, long face, and deeply set eyes may be noticeable sometimes.
Marfan’s syndrome usually gets overlooked, as most of these symptoms are subtle. It only gets noticed when the complications increase.
How Does Marfan Syndrome Affect The Heart?
The dangerous complications of this syndrome are the heart problems. The weakness of the connective tissues impacts the cardiovascular system in different ways. They are:
1) Aortic Valve Issues
The enlargement of the aortic valve will stretch the valve and cause leakage. This is otherwise called aortic regurgitation. If left untreated, this will cause more strain on the heart, leading to heart failure.
2) Mitral Valve Prolapse
The mitral valve separates the heart’s lower and upper chambers, might fail to close properly or become floppy. This prolapses the mitral valve and causes the blood to flow back to the heart. The symptoms of these include shortness of breath, fatigue, and irregular heartbeat.
3) Arrhythmias
Some people with Marfan’s syndrome might experience irregular heart rhythms, which are otherwise known as arrhythmias. This arrhythmia causes fainting, dizziness, and palpitations in them. This might not be dangerous, but sometimes people experience sudden cardiac issues or a stroke.
4) Aortic Dissection and Enlargement
As the aorta is the largest blood vessel or artery that helps in carrying blood from the heart, if it is enlarged, then it causes an aortic aneurysm. If left untreated, this causes the aorta to rupture or tear, known as aortic dissection. It is a life-threatening condition that needs immediate surgical and medical attention like the best bentall procedure in coimbatore.
What Are The Treatments That Help Manage Marfan Syndrome?
The treatments that help manage Marfan syndrome and reduce its effects on the heart are:
- Surgery: If the heart valves are dangerously damaged or if the aorta is severely enlarged, then surgeries are required immediately.
- Medications: Some drugs help in reducing blood pressure and heart rate. So, it does not cause more strain on the aorta.
- Supportive Care: Beyond the heart treatments, orthopedic support is required for bone problems, regular eye checkups, and surgery for skeletal deformities. Families who plan to have children should undergo counseling to know whether their child might inherit Marfan’s syndrome or not.
- Lifestyle Changes: People who have Marfan’s syndrome should not be involved in actions that put too much stress on the heart. Moderate activities, including swimming, cycling, or walking, are recommended by the doctors.
- Frequent Checkups: Regular monitoring, including eye exams and echocardiograms, is needed to keep track of the severity of the disease.
Conclusion
Marfan’s syndrome can affect any part of the body. The highly prone organs are the heart and the aorta. Hence, a cardiovascular checkup has become the most undeniable one. This syndrome has been seen as the one that needs lifelong care and medical assistance. But with proper lifestyle changes, medical care, and maybe surgery, people with Marfan’s can live a long and healthy life.
Early diagnosis, awareness, and finding a cardiac surgery hospital in coimbatore will make all the difference in managing this condition safely and effectively. If this condition is diagnosed in you or your loved ones, then regular check-ups and early treatment are the key factors to avoid serious heart problems.
