米国マルファン症候群患者団体The Marfan Foundationからの情報を中心に、マルファン症候群や関連疾患についての海外情報を翻訳して発信します。

マルファン症候群をはじめから ~画像検査・薬物治療・予防的大動脈置換~

Marfan Syndrome Management: Back to Basic




So what can we do to prevent bad outcomes in Marfan syndrome? How can we manage this, how can, how have we changed the life expectancy from 30 to near normal? 



So there's serial imaging to monitor growth of the aorta. There's medical therapy to slow aorta growth and there's prophylactic aortic replacement surgery. So when we think the aorta is so big that there's some risk of dissection to go ahead and do aortic surgery. 



So first of all when we're imaging we can get echocardiography, MRI or CT. And we measured all of these areas as much as possible. This is just showing all the areas that we measure and we see where it's dilated and again this the aortic root, which is also called the Sinus of Valsalva, is the most common area in Marfan syndrome to be dilated.



So what about medications? And I saw there were some questions in Q&A and I'm happy to answer questions at the end because this is a really detailed topic but basically big picture is there's two good medicines for Marfan syndrome right now. The class of medicine called beta blockers and the class of medicine called angiotensin receptor blockers. Now beta blockers more affect the heart rate than the blood pressure and we know that they slow aortic growth and this med has been around forever. In the early 2000s angiotensin receptor blockers had been around for a while but it was found in mouse models of Marfan syndrome that they helped prevent and/or slow rates of aortic dilation. 



Now that some human studies were done because it's thought they would be better than beta blockers and really they seem to have similar efficacy but more recent studies have shown actually using them together, because they work in different pathways, is best for people who have moderate to severe dilation.



And so it's imaging for most people you're usually going to get an echocardiogram every six to 12 months or an MRI or CT every one to two years. Sometimes in mild cases, especially pediatric cases, they might go longer between MRIs if there's no real root dilation and for children you might want to consider increased frequency in puberty because that's the fastest time the aorta will ever grow. 



And so this is from the American Heart Association guidelines that basically it's recommended annual imaging of some sort is recommended in Marfan syndrome but if the diameter is 4.5 centimeters or greater or there's more rapid growth more frequent imaging should be considered.



And prophylactic aortic replacement, again which we're going to hear more about in a minute, currently replacement in most people is at five centimeters. We don't go by z scores. We go by absolute dimension because we know that if you make it to six centimeters there's a full a four-fold increase in rupture or dissection risk. 



Now we know that you might need to intervene earlier than five if there's rapid growth, a family history of dissection at a small diameter. There's more than mild aortic regurgitation or someone's planning a pregnancy and I'm happy to answer questions about that too. We know pregnant women are at higher risk for dissection as well.



The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.

The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.org にアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。