Marfan syndrome: symptoms, causes, treatment, etc. & bull; hello healthy

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Definition

What is Marfan syndrome?

Marfan syndrome or Marfan syndrome is a congenital disorder in newborns that affects the connective tissue in the body.

Connective tissue is the fibers that support and bind organs and other structures in the body. Its presence is also important in helping the growth and development of the baby's body.

The damage to connective tissue is due to a chemical process that causes gene mutations in the body. Marfan syndrome or Marfan syndrome is a condition that generally attacks the heart, eyes, skin, bones, nervous system, blood vessels and lungs of a baby.

One of the threats that can be caused by this syndrome is damage to the aorta, which is the artery that carries blood from the heart to all parts of the body.

Marfan's syndrome or Marfan's syndrome can damage the inner lining of the aorta, causing bleeding in the walls of the blood vessels. This condition is dangerous and life threatening.

Some babies born with Marfan's syndrome or Marfan's syndrome also have mitral valve prolapse, which is a condition in which the heart's mitral valve thickens. This condition causes the baby's heart to beat faster and difficulty breathing.

Although until now Marfan syndrome has not been completely cured, advances in the medical world can help sufferers to live longer.

Therefore, babies with this syndrome need to get an early, accurate diagnosis.

How common is this condition?

Marfan's syndrome or Marfan's syndrome is a disease of mutation in a gene that is quite common in newborns.

This syndrome affects 1 in 5000 to 10,000 newborns of various races and ethnic groups. About 3 in 4 people with Marfan's syndrome experience this condition as a result of being passed down from their families.

However, in some cases, there are also those who are the first people in their family to have Marfan syndrome, aka they don't get it genetically or hereditary.

This phenomenon is called a spontaneous mutation. The chance of Marfan syndrome being passed on to the next generation is about 50%.

Signs & symptoms

What are the symptoms of Marfan syndrome?

The signs and symptoms of Marfan syndrome are very diverse. In fact, in some cases, this syndrome does not show obvious symptoms.

Generally, this disease develops with age, and the symptoms that appear will become clearer as the connective tissue changes.

Some people have only mild signs and symptoms, but others may experience life-threatening complications.

The following are signs and symptoms of Marfan syndrome or Marfan syndrome that may be seen:

1. Physical appearance

Babies and children with Marfan syndrome are usually thin and tall. Her arms, legs, and toes may appear disproportionate and too long for her size.

In addition, the spine of a child with this syndrome may appear bent so that some sufferers also have kyphoscoliosis.

The joints of babies and children with Marfan syndrome also feel weak and they move easily.

Generally, the face of the person with Marfan's syndrome is long and sharp, accompanied by the shape of the roof of the mouth that is higher than normal.

2. Teeth and bone problems

Babies and children with this syndrome also usually have problems with the teeth and roof of the mouth.

In addition, bones in babies and children who have Marfan's syndrome are generally problematic, such as the flat shape of the sole of the foot, a hernia, and shifting bones.

3. Eye problems

Another symptom that can be seen in babies and children with Marfan syndrome is vision problems.

This syndrome causes the baby's vision to be blurry, the viewing distance is closer, the eye lens is shifted, or there is a difference in shape between the left and right eyes.

4. Changes in the heart and blood vessels

As many as 90% of babies and children with Marfan syndrome experience changes in heart and blood vessel function. Marfan's syndrome can damage the walls of blood vessels.

This has the potential to trigger an aortic aneurysm, aortic dissection, or aortic rupture.

Infants and children with Marfan syndrome may also experience bleeding inside the skull or brain aneurysms.

Infants and children with Marfan syndrome are also at risk for heart valve problems, such as mitral valve prolapse.

This is usually indicated by shortness of breath, very tired body, or an irregular heartbeat.

5. Changes in the lungs

The lungs can also be affected by this disease. Generally, Marfan's syndrome also makes babies and children have breathing problems such as asthma, chronic obstructive lung disease (COPD), bronchitis, pneumonia, or lung collapse.

6. Other signs

Another symptom that may appear in babies and children with Marfan's syndrome or Marfan's syndrome is reduced elasticity in the skin.

Seen too stretch marks in some areas of the skin, even though the patient is not gaining weight.

When to go to the doctor

If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Marfan syndrome?

The main cause of Marfan's syndrome or Marfan's syndrome is a disorder or mutation in the gene responsible for forming connective tissue.

Launching from the Cleveland Clinic, connective tissue is made of a protein known as fibrillin-1. Gene errors or mutations can affect fibrillin-1 production.

In addition, gene mutations cause the body to produce another protein named transforming growth factor beta or TGF-β. This protein can affect the strength and elasticity of connective tissue.

Connective tissue can be found in all parts of the body. If the connective tissue has been attacked by Marfan's syndrome or Marfan's syndrome, a lot of body parts will be affected.

The body tissues involved such as the heart, blood vessels, bones, joints, eyes, lungs, skin, immune system, and the most dangerous are the aortic vessels.

Most people with Marfan's syndrome inherit a gene mutation from a parent who has the disorder.

Each child of a parent with this syndrome has a 50:50 chance of inheriting the abnormal gene.

In about 25% of people with Marfan's syndrome or Marfan's syndrome, the defective gene does not come from the parent. In this case, a new mutation develops spontaneously.

Risk factors

What increases the risk of Marfan syndrome?

Marfan syndrome or Marfan syndrome affects both boys and girls in all racial and ethnic groups.

Because it is a genetic condition, the biggest risk factor for Marfan syndrome or Marfan syndrome is having a parent or family member with this congenital disorder.

Diagnosis & Treatment

The information described is not a substitute for medical advice. ALWAYS consult your doctor.

How do doctors diagnose this condition?

If the doctor suspects Marfan syndrome, the newborn will undergo a thorough physical examination of the eyes, heart, blood vessels, muscular system and skeleton.

The doctor will also ask your family medical history to get information on whether the disease was inherited from the family or not.

Other tests that are useful for diagnosing Marfan syndrome include the following:

• X-ray or chest x-ray
• Electroardiogram (EKG)
• Echocardiogram
• Eye examination
• Eye pressure test

If the findings from the standard tests for this syndrome are not clear, genetic testing may be of help.

If you are planning a pregnancy, you are positive for this syndrome, you may also need to consult a genetic counselor before having children.

This is done to see if there is a chance that you will pass on this genetic disorder to the future baby.

What are the complications of Marfan syndrome?

Since Marfan's syndrome can affect almost any part of the body, it may cause all kinds of complications in babies and children.

The most dangerous complications of the syndrome involve the heart and blood vessels. Defective connective tissue can weaken the aorta, aka the large arteries that flow from the heart and supply blood to the body.

Aortic aneurysm

Blood pressure leaving the heart can cause the walls of the aorta to bulge, much like a weak spot on a vehicle tire.

Aortic dissection

The walls of the aorta are made of various layers. Aortic dissection occurs when a small tear in the inner lining of the aortic wall allows blood to press between the inner and outer wall layers.

This causes excruciating pain in the baby's chest or back. Aortic dissection weakens the structure of the vessels and can result in a tear that may be deadly.

Valve malformation

People with Marfan's syndrome are also more prone to problems with heart valves that may be deformed or too elastic.

When the heart valves are not working properly, the heart often has to work harder to replace them, resulting in heart failure.

According to the Mayo Clinic, eye complications in babies can include:

• Dislocation of the eye lens
• Retinal disorders
• Early glaucoma or cataracts

Marfan's syndrome also increases the risk of abnormally curved spine, such as scoliosis.

Marfan syndrome can also inhibit the development of normal ribs, which can cause the sternum to protrude or appear to sink into the chest.

Lower back and leg pain are also common in patients with Marfan syndrome or Marfan syndrome.

How to treat Marfan syndrome?

Infants and children with Marfan syndrome or Marfan syndrome are treated by a multidisciplinary medical team consisting of geneticists, cardiologists, ophthalmologists, orthopedic surgeons and thoracic surgeons.

Although there is no cure for Marfan's syndrome, treatment focuses on preventing various complications of the disease.

To find out what treatment is most appropriate, babies and children should be checked regularly for signs that damage caused by the disease is developing.

Home remedies

What are some home remedies or lifestyle changes that can be taken to prevent or reduce the symptoms of Marfan's syndrome?

Babies and children can take several medications independently to prevent or reduce the symptoms of Marfan's syndrome or Marfan's syndrome.

Some of the home remedies for Marfan's syndrome include the following:

1. Physical activity

Most children with Marfan syndrome or Marfan syndrome can participate in certain types of physical activity and / or recreational activities.

Children with dilated aorta are not able to do high-intensity group sports, contact sports, and isometric sports (such as lifting weights).

Children with a dilated aorta will be advised to avoid high-intensity team sports, contact sports, and isometric sports (such as lifting weights). Ask a cardiologist about activities or exercise referrals for your little one.

2. Pregnancy

Genetic counseling should be done before becoming pregnant because most cases of Marfan's syndrome are congenital conditions.

Frequent follow-up blood pressure checks and careful monthly echocardiograms are required during pregnancy.

If there is rapid enlargement or dilation of the aorta, rest or surgery may be necessary. Your doctor will discuss with you the best method of delivery.

3. Prevention of endocarditis

Children with Marfan syndrome or Marfan's syndrome that involve the heart, heart valves, or who have had heart surgery may be more at risk bacterial endocarditis.

Bacterial endocarditis is an infection of the valve or heart tissue that occurs when bacteria enter the bloodstream.

To reduce the risk of endocarditis, antibiotics are needed in patients with Marfan's syndrome who are going to undergo surgical procedures.

Check with your doctor about the type and amount of antibiotics you should take.

4. Emotional considerations

Babies and children with Marfan's syndrome or Marfan's syndrome are prone to stress, emotional distress, and desperately need an adjustment of outlook and lifestyle.

To avoid all this pressure, your little one should always need support from the people around you.

5. Follow up

Routine follow-up examinations include cardiovascular, eye, and skeletal examinations, especially during infancy. The doctor will discuss further actions related to this condition.

If you have any questions, consult your doctor to better understand the best solution for you.

Hello Health Group does not provide health advice, diagnosis or treatment.