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Marfan Syndrome A guide to prevention, treatments, and recognition of the symptoms of a disorder that can change your life.

Detecting the symptoms might just save your life.


What is Marfan? Contracting Marfan Marfan is a genetic disorder that effects the chromosome that is responsible for making fibrilin. The disorder is passed from parent to offspring. Chances of getting the disorder Since Marfan is a genetic disorder, if only one parent is contracted with it, there is a 50% chance of the child having the disorder as well. What parts of the body are affected? Marfan affects the connective tissue in the body. Therefore, the parts that are most effected by the disorder are as follows:  Bones  Fingers, toes, teeth, and jaw structure  Heart  Chest  Spine and back

What do people with this disorder look like? Most people with Marfan disorder will have the following physical features  Tall, thin build  Long limbs and flexible joints  Scoliosis-the curving of the spine  Crowded teeth  Flat feet  Chest that sticks in or out. The photos below are body parts that are most commonly affected by MarfanAll photos in the article credited to Google.

Spine Hands and fingers

The important thing to remember if you have any of these abnormalities is to seek a health care professional quickly.

Heart


More about Marfan Complications Heart The main blood vessel, the aorta, can stretch and grow weak. The aorta is a main part of the circulatory system and if damaged can cause serious blood flow damages. Eyes A common problem is the dislocation of the lens in one or both of the eyes. Glaucoma is a high pressure of the fluid in the eyes and can build up over time. Early cataracts and a detached cornea may also occur. Nervous System Since fluid surrounds the brain and spinal chord in every individual, it is necessary to have a substance called Dura cover the fluid.

Diagnosis

Treatments

Medicines can be used to slow Most people with Marfan should aortic dilation. see a doctor for diagnosis. Beta blockers are used to slow Physical exams such as an heart rate and the force at which echocardiography– waves that the heart beats. travel to send pictures of your Surgery may be needed to replace the aorta with a man made tube heart and blood vessels– may be called a gaft. used to specify a diagnosis. A brace maybe used for people Most cases of Marfan can be with scoliosis or curvature of the spinal region. identified through family history Wearing glasses for people with content . eye complications. A Ghent Criteria will be used to Pain relievers seem to be the best test your symptoms with that of thing to use for nervous system malfunctions. usual characteristics of people A tube can be placed inside the with the disorder. chest to remove the air from the lungs.

Lung The lungs can collapse due to air or gas build up in between the lung and chest wall. Scoliosis can prevent the lungs from expanding which can lead to serious breathing problems. Other There are also many breathing abnormalities associated with Marfan that include paused breathing randomly , choking , and snorting when taking breaths. Sleep apnea is common due facial or jaw bone structure.

The graph above illustrates the number of cases of Marfan syndrome worldwide that were reported in an eleven year span. As one can see, 2009 had the highest number of reported cases in the eleven year span. As of 2011, only three cases were or have been reported.


Need More Information? Check out these links for further information regarding Marfan Syndrome.

Websites http://www.marfan.org/marfan/

Use this link to find about diagnoses, treatments, and other important information about the disorder.

http://www.nhlbi.nih.gov/health/health-topics/topics/mar/signs.html

This national organization contains important facts pertaining to the disease.

Articles 

http://web.ebscohost.com

This article explains how Marfan can affect the heart and other information about the disorder. 

http://web.ebscohost.com/ehost

Do you have or know anyone who has children with Marfan? Read this article explaining how Marfan affects children and what you can do for your child to help cope with the disorder.

Marfan Syndrome

Marfan_NathanShafer  

Dr.Shields Health Project 2013

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