Marfan Syndrome Awareness Coming Thruuuuuu!

OKAY GET IT TOGETHER GUYSSS! THIS IS A VERY CONFUSING TOPIC TO UNDERSTAND.

So, as stated from the title, these are the related disorders which are similar to Marfan Syndrome. I am going to tell you roughly the types of syndromes. Some terms might be hard to understand but, not to worry! I will my best to make it simple.

LOEYS-DIETZ SYNDROME

Loeys-Dietz syndrome is a genetic disorder of the body’s connective tissue.
It has some features in common with Marfan syndrome, but it also has some important differences.
Loeys-Dietz syndrome is an enlargement of the aorta, the large blood vessel that carries blood from the heart to the rest of the body.
The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection).
This is a life-threatening complication that can occur without warning. In Loeys-Dietz syndrome, aneurysms and dissections also can occur in arteries other than the aorta.

EHLERS-DANLOS SYNDROME

Ehlers-Danlos syndrome is a group of genetic connective tissue disorders characterized by unstable, hypermobile joints, loose, “stretchy” skin, and fragile tissues.
Ehlers-Danlos syndrome is caused by a defect in the body’s connective tissue.
Unlike Marfan syndrome, the fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to defects in a group of proteins called collagen, proteins that add strength and elasticity to connective tissue.

MASS PHENOTYPE

MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome.
It is caused by a similar mutation in the gene called fibrillin-1 that tells the body how to make an important protein found in connective tissue.
Someone with MASS phenotype has a 50 percent chance of passing the gene along to each child.

I know it's a lot to take in. But that is all for now.

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Here is a video ALL ABOUT MARFAN SYNDROME from my favourite YouTuber

😄😄😄😄😄

I hope with this video, you guys can have a better understanding about MARFAN SYNDROME. You can see the causes, symptoms, diagnosis, treatment and pathology of Marfan Syndrome here.

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How are YOU diagnosed with Marfan Syndrome?

1. Medical history

The doctor will ask you about your past medical history and also your family's medical history as this is an inherited syndrome.

Question examples:

"Have you ever had any heart diseases, eye problems or spine problems?"

"Have you experience any shortness of breath, palpitations or chest pain?"

2. Physical examination

The doctor will do a physical examination on you to check the curve of your spine and also the shape of your feet. The doctor will refer a set of guidelines called Ghent criteria to diagnose Marfan syndrome. The doctor will check your heart and lungs too.

3. Echocardiography test

Echocardiography is a painless test that uses sound waves to create pictures of your heart and blood vessels mainly aorta for Marfan Syndrome. This test can show the size and shape of heart and also the diameter of the blood vessels. It also shows how well the valve and heart chambers are working.

4. MRI

Many of you heard of MRI but do you actually know what it means and how it works? NO?

ohmy...

Haha kidding! OK MRI stands for magnetic resonance imaging. MRI uses radio waves and magnets to create detailed pictures of the organs and tissues. MRI is used to check the heart valves and aorta.

5. CT SCAN

CT scan means computed tomography and it uses an x-ray machine to get clear and detailed pictures of the organs. Its just the same as MRI as it is used to check the heart valves and also the aorta.

DID YOU KNOW??

MRI and CT scans are also used to check for dural ectasia, a nervous system complication of Marfan Syndrome

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You must be very curious of the causes of Marfan Syndrome because most of us have never heard of it. OK here we go..

Marfan syndrome is caused by a defect or mutation in the gene that determines the structure of fibrillin-1 known as the FBN1 gene. This mutation results in an increase in a protein called transforming growth factor beta or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.

Did you know a person with Marfan syndrome is born with the disorder? Yes, even though it may not be diagnosed until later in life. In addition, the defective gene that causes Marfan syndrome can be inherited meaning the child of a person who has Marfan syndrome has a 50 percent chance of inheriting the disease.

Next cause of Marfan syndrome is a new gene defect that occurs during the formation of sperm or egg cells that makes it possible for two parents without the disease to have a child with the disease but this is RARE.

Fun fact: Do you know that two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome.

Possibly 25 percent of cases of Marfan syndrome are due to a spontaneous mutation at the time of conception. Although everyone with Marfan syndrome has a defect in the same gene but different mutations are found in different families and not everyone experiences the same characteristics of Marfan syndrome. In other words, the defective gene expresses itself in different ways in different people. This phenomenon is known as variable expression.

OK let's recap. Which gene mutation causes Marfan Syndrome?

A. CFTR gene mutation

B. FBN1 gene mutation

C. Beta Globin gene mutation

Whats your answer?