Marfan Syndrome

Marfan syndrome is a hereditary disease

where

the connective tissue is affected.

Connective tissue is what "holds" the body tight so with this disease they have more probability to brake and it don't work as it should

It can affect skeleton, blood vessels and heart.

By: Paula Echeverry

What it is?

Causes?

Marfan Syndrome happens when a mutation or a defect occurs

in the gene that determines the structure of Fibrillin- 1, an

important part of the connective tissue

Inheritance

A Child have 50% more probabilities to inherit the trait

from an affected parents. But only 1 of 10,000 develop

the disease from the malformation of the egg or the

sperm and only 25% of the cases are developed by an

spontaneous mutation at conception.

Sympthoms

Symtoms affect people in different ways. Some cases are with soft symptoms and others are more severe. All symptoms progress with age

Skeleton: People with Marfan syndrome tend to have

disproportion ed bones, it can be seen in their legs, arms,

fingers and toes. They have a large face and often have

other diseases like flat- feet or scoliosis. Also a huge "hole"

in the chest can occur, this is called Pectum Excavatum.

Eyes: More than half of people with Marfan Syndrome tend to have a dislocation of the lens. People with this can develop early glaucoma and cataracts.

Cardiovascular system: With this disease blood

vessels can be weaker. In most cases the aorta

tend to have aortic dilatation, which can cause of
aortic dissection, it tears or brakes, so there is a

higher risk of sudden death.

Dural ectasia and pain in the back

Skin: They can develop stretch

marks and when they grow, also

hernias.

Lungs: Lungs with this syndrome tend to be less elastic. Most of people with it doesn't have problems with their lung but can develop sleep apnea and snoring.

Psychological efects

People with Marfan

syndrome tend to have

different reactions to the

dignosis of this disease

Adults may feel angry or scared to the diagnosis of it.

They feel guilt when their kids have it, but it is not all their fault, if its just a mutation.

Of course it can cause social and emotional

stress or in the worst case, seeing a bad

social reaction,causing bulling or they

distance themselfs from the society

Unfurtunately there is not a cure for this disease. To find

it scientist have to search for a change in the gene to

determinate the diagnosis.

References:

William. C, Shiel. Jr, MD, FACP, FACR.

Recoverd from

http://www.medicinenet.com/marfan_sy

ndrome/article.htm



Mayo Clinic Staff. (2013). Marfan

Syndrome. Recoverd from

http://www.mayoclinic.org/diseases-

conditions/marfan-

syndrome/basics/definition/con-

20025944


Genetics home reference. (2012). What

is Marfan Syndrome?. Recoverd from

https://ghr.nlm.nih.gov/condition/marfa

n-syndrome


NIAMS. (2015). Questions and aswers

about Marfan Syndrome. Recoverd from

http://www.niams.nih.gov/Health_Info/

Marfan_Syndrome/