Monday, May 21, 2012

May 21, 2012

This week will be ECHO's & check-ins with the cardiologist for my husband & youngest daughter. It will be either a routine week or it will be one of those weeks that turns our lives upside down, the question is which?

For those new to Marfan syndrome, a little background. Marfan syndrome is a genetic disorder of connective tissue, the tissue that strengthens the body's structures. Connective tissue holds all parts of the body together and helps control how the body moves & grows. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few. The most serious complications of Marfan syndrome involve the heart and blood vessels. Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm. If the aorta stretches and grows weak, it may tear or burst and leak blood. This condition is called aortic dissection. It's very serious and can lead to severe heart problems or even death.

Luckily we caught ours before it got that bad, and with good monitoring & in my husband's case, aortic valve replacement surgery in 2000, we have avoided the worst case scenario. It's always in the back of our mind, but we are always aware the danger can arise at any time.

As part of taking care to avoid the worst, my husband has exams done ever 6 months due to him having a family history of heart problems in addition to the Marfan's, and the rest of us are on every year. Now comes 2 of those visits over the next 2 days. Wish us luck that the news is "No change, see ya next time!"


  1. I've got mixed feelings about the once a year checks...Not to scare you or anything, but my husband had been stable for over two years and his cardiologist changed his recheck from every 6 months to every year. It was about 8 months later (memory is fuzzy) that he had a type b dissection. We never blamed the doctor but I know he felt bad. He wondered if he might have picked up on changes had we seen him earlier. That's one we will never know. I am so glad that your doctor said things look good!

    1. Our doctor wanted to go to annual checks for Daniel last year & I said no, as the descending was still at risk for enlargement & there is a family history of Coronary Artery Disease (which Daniel has) as well as another close non-Marf family member with a AAA. After I put my foot down, the doctor relented. :-)

      There is part of me that would like to see her bumped up to every 6 months, but unless something new shows up I'm doubtful we could convince them to. We just pray things stay stable for a LONG time...