Tuesday, February 18, 2014

Interview with a Professional on Marfan Syndrome

While browsing on the internet for more information, I came across a page of the Cincinnati Children's Hospital Medical Center's website. They're currently ranked the third best children's hospital in the nation, three years in a row. Here is a link to the exact page, which is trying to reach out to children, adolescents, and young adults who have Marfan Syndrome to see if they are interested in participating in a medication study that compares the effect of beta blocker therapy to receptor blocker therapy on the rates of aortic growth and other cardiovascular outcomes.
Although I personally do not have Marfan Syndrome and am not interested or eligible to participate in the medical study, I continued to read through the page and came to a contact at the bottom. I felt that I could gain more information by speaking to an actual professional on my topic, so I decided to contact the name given via email. 
I conducted the email interview with Michelle S. Hamstra, M.S. (Master of Science), who works in the Department of Cardiology at Cincinnati Children's. After introducing myself and my purpose for contacting her, I asked her:
  • What are the effects on the heart due to Marfan Syndrome?
  • When are people usually diagnosed?
  • What kind of medications are used to treat the syndrome?
  • What effect do these medications have, and how effective are they in treating the syndrome?

She replied a couple days later with a ton of helpful information:

Good morning, Amanda.
Thank you for your email. 

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body. Features of the disorder are most often found in the heart, blood vessels, bones, joints and eyes. One effect Marfan syndrome can have on the heart is aortic enlargement (the main blood vessel that carries blood away from the heart to the rest of the body. It can become larger than it should and risks tearing or rupturing). Aortic enlargement can be life threatening. The lungs, skin and nervous system may also be affected.

About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. A parent has a 50% chance of passing along the genetic mutation each time she/he has a child. If a parent is aware that she/he has Marfan syndrome, then the children are usually diagnosed early in childhood. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation.

Although people with Marfan syndrome are born with it, the features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are older. Some features of the disorder can get worse over time.

While Marfan syndrome is a condition that cannot be cured, people can live long, full lives with proper treatment and management. Everyone is different, depending on how severe or mild their features are. Management includes limitations on physical activity, regular doctor appointments and other evaluations to monitor features/symptoms of the disorder. Treatment may include daily medications such as beta blockers (like atenolol/Tenormin) or angiotensin receptor blockers (like losartan/Cozar). These medications manage blood pressure and reduce stress that is placed on the heart. The goal of medical treatment is to control or slow the rate of growth (or dilation) of the aorta. Atenolol and Losartan’s effectiveness in controlling the rate of growth of the aorta is what we are currently researching. Clinical experience would suggest that when used properly, medication can help slow and control aortic enlargement for many people affected by Marfan syndrome. The study you read about that led you to email me, is ending this month. We hope to have results to share before the end of the year.

She even provided me with a very helpful website dedicated entirely to Marfan Syndrome in case I was further interested and needed more information: http://www.marfan.org/

I strongly encourage anyone interested as well to check out the website, and perhaps anyone with Marfan Syndrome to consider the medical study. 

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