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Marfan Syndrome: Symptoms, Causes, Diagnosis and Treatment

“What is Marfan syndrome?” Marfan syndrome, the fibres that support and anchor the organs and other components in the body, is a hereditary condition that affects connective tissue. The heart, eyes, blood vessels and skeleton are most often affected by Marfan syndrome.

Marfan Syndrome Symptoms, Causes, Diagnosis and Treatment-min

With unusually long arms, legs, fingers and toes, individuals with Marfan syndrome are typically large and small. The harm may be mild or serious due to Marfan syndrome. The disorder can become life-threatening if your aorta, the large blood vessel that brings blood from your heart to the rest of your body, is damaged.

Treatment commonly requires medicines to keep your blood pressure down to decrease your aorta’s strain. It is important to periodically track to check for damage advancement. To repair the aorta, several individuals with this disorder ultimately need preventive surgery.

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms
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Symptoms of Marfan syndrome, even among members of the same family, differ significantly. Some individuals only encounter minor symptoms, while others develop life-threatening complications. In many other instances, with age, the disorder continues to worsen.

Eye Complications

More than half of all persons with Marfan syndrome have eye issues, involving nearsightedness (blurring of objects far away), subluxation of the lens (the eye lens shifts away from its normal position), or changes in eye form or other eye problems.

Physical Appearance

There are often very tall and thin individuals with Marfan syndrome. They can appear out of proportion with their arms, legs, fingers and toes, too long for the rest of their body. Their backbone can be bent and either stick out or be indented by their breastbone (sternum). Their joints can be fragile and displace easily.

There is always a long, narrow face in individuals with this disorder, and the roof of the mouth can be higher than average, causing the teeth to crowd. Marfan syndrome triggers many changes, particularly dental and skeletal (bone) issues, to happen inside the structures of the body.

Dental and Bone Complications

Patients with Marfan syndrome may have a dental history of narrow palate tooth extractions or palate expansions. Patients can also have a history of bone disorders, such as flat feet, hernias, and dislocations of the bone.

Alterations in the eyes, heart and blood vessels, lungs and skin are other changes that take place in this disorder because of the distorted connective tissue.

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Blood Vessel Changes

The walls of the blood vessels become unstable and dilate (stretch) with this disorder. The aorta, the main artery that supply blood to the heart to the rest of the body, is also affected by these blood vessel changes. An enhanced risk of aortic aneurysm, aortic dissection or rupture (bursting) is present when the walls of the aorta weaken or stretch. It can dilate or dissect all parts of the aorta.

These circumstances can result in a medical emergency and are life-threatening in some instances. Patients, related to as Berry aneurysms, can also have a history of intracranial bleeding or brain aneurysms.

Heart Valve Complications

Marfan syndrome may influence the valves of the heart, particularly the mitral valve. The leaflets of the valve become floppy and do not close firmly, enabling blood to flow through the valve backwards (mitral valve prolapse, also called MVP). The valve leaks and the disorder is called mitral valve regurgitation as MVP advances.

Other Marfan Syndrome Signs

  • A breastbone that protrudes outward or dips inward
  • A high, arched palate and crowded teeth
  • An abnormally curved spine
  • Disproportionately long arms, legs and fingers
  • Extreme nearsightedness
  • Flat feet
  • Heart murmurs
  • Tall and slender build

Marfan Syndrome Causes

Marfan Syndrome Causes

Causes of Marfan syndrome encompass a gene defect which causes the body to create a protein that tends to give elasticity and power to connective tissue.

A parent who has the condition inherits the abnormal gene from most individuals with Marfan syndrome. There is a 50-50 chance for every child of an infected parent to inherit the faulty gene. The defective gene does not come from either parent in about 25 percent of the people who have this disorder. In these circumstances, a new mutation develops naturally.

Risk Factors & Complications

Marfan syndrome, which occurs in all races and ethnic groups, impacts men and women evenly. The biggest risk factor for Marfan syndrome is having a parent with the disease, since it is a genetic condition.

Since almost every part of your body can be affected by Marfan syndrome, it can trigger a wide range of complications.

◊ Skeletal Complications

Marfan syndrome raises the risk, such as scoliosis, of irregular curves in the spine. The natural growth of the ribs can also intervene, which can trigger the breastbone to either protrude or appear to be sunken into the chest. With this disorder, foot pain and low back pain are prevalent.

◊ Pragnancy Complications

The walls of the aorta, the primary artery leaving the heart, may be damaged by Marfan syndrome. A woman’s heart pumps more blood than normal during pregnancy, and this may place added stress on a woman’s aorta, which raises the likelihood of a deadly dissection or rupture.

◊ Eye Complications

There are three core Marfan syndrome complications when it comes to eye problems:

Lens Dislocation

If its reinforcing structures weaken, the focusing lens inside your eye will shift out of place. Ectopia lentis is the medical term for this condition, and it happens in more than half of those who have this disorder.

Retinal Problems

The risk of a separation or tear in the retina, the light-sensitive tissue covering the back wall of your eye, is also increased by Marfan syndrome.

Early-Onset Glaucoma or Cataracts

These eye issues appear to occur at a younger age in people who have this disorder. Glaucoma produces an increase in the pressure inside the eye that can affect the optic nerve. In the usually clear lens of the eye, cataracts are cloudy regions.

◊ Cardiovascular Complications

• Aortic Aneurysm

Like a weak point in a tyre, the blood pressure leaving your heart could trigger the wall of your aorta to bulge out. It is most likely to occur at the aortic root, where the artery exits the heart, in individuals with Marfan syndrome.

• Aortic Dissection

Layers make up the wall of the aorta. Dissection takes place when a slight tear in the innermost layer of the wall of the aorta enables blood to squeeze between the wall’s inner and outer surfaces. This can cause serious chest or back pain. An aortic dissection weakens the design of the vessel and can lead to a rupture, which can be devastating.

• Valve Malformations

Those who have this disorder in their heart valves can have softer than usual tissue. This can generate valve tissue stretching and irregular valve activity. Your heart also needs to work harder to make up for when heart valves do not work appropriately. Subsequently, this will result in heart failure.

Marfan Syndrome Diagnosis

As many connective tissue conditions have similar symptoms, Marfan syndrome may be difficult for doctors to diagnose. Also among members of the same family, both in their characteristics and in their intensity, the signs and symptoms of Marfan syndrome vary considerably.

For confirmation of a diagnosis of Marfan syndrome, certain combinations of symptoms and family history must be available. An individual may have some characteristics of this disorder in some instances, but not enough of them to be diagnosed with the illness.

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Marfan Syndrome Treatment

Treatment

Marfan syndrome demands a care plan that is tailored to the specifications of the patient. There may be no medication needed for certain persons, only daily follow-up visits with their doctor. Others may require surgery or medicines. The technique depends on the affected systems and the intensity of the disorder.

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Medications

Medications for the treatment of Marfan syndrome are not used, but can be used to avoid or manage complications. Medications might include:

A beta-blocker increases the capacity of the heart to relax, reduces the frequency of the heartbeat and the pressure inside the arteries, thus stopping or reducing the aorta’s expansion. Therapy with beta-blockers can start at an early age.

A calcium channel blocker, such as verapamil, is suggested for individuals who are unwilling to take beta-blockers because of asthma or adverse effects.

A type of medication acting on a chemical pathway in the body is an angiotensin receptor blocker (ARB). In the treatment of high blood pressure as well as heart failure, these agents are also utilized. Clinical trials are presently being performed to determine how aortic expansion can be avoided by these medications.

Surgery

Marfan syndrome surgery is targeted at avoiding aortic dissection or rupture and addressing problems with the valve. Surgery is advised if the diameter of the aorta is greater than 4.7 cm to 5.0 cm (based on the height), or if the aorta is rapidly expanding. Your aortic root diameter to height ratio can also be determined by your cardiologist, as this may also affect whether you can have surgery. If you are having a pregnancy, it will also impact the surgery suggestions.

Surgery guidelines are focused on aorta size, predicted normal aorta size, aortic growth rate, age, height, gender and family history of aortic dissection. Surgery requires substituting a graft for the dilated part of the aorta.

When Marfan syndrome triggers a leaky aortic or mitral valve (regurgitation) that tends to changes in the left ventricle (lower left chamber of the heart) or heart failure, valve repair or replacement surgery may be required.

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