What are the considerations for pregnancy in Marfan syndrome? I get asked that question a lot when people come into clinic, like, what's the percentage of people that do prenatal diagnosis or maybe terminating a pregnancy with Marfan syndr…

What if my diagnosis is unclear? That's really challenging for patients because they want to know yes or no that they have it and sometimes as kids are growing older, their features are evolving that they might not have the scoliosis or cu…

What is the most important thing to do after receiving the diagnosis? After getting a diagnosis of Marfan syndrome, the most important things are to develop your healthcare team. マルファン症候群の診断を受けた後にすべきことは、自分専用の医…

What is the role of the genetic counselor? My name is Gretchen Oswald and I'm a genetic counselor at Johns Hopkins. I've been here for about nine years and I work in the connective tissue clinic. グレチャン・オズワルドと申します。ジョンズ…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 28:48～29:28 So in summary, Marfan syndrome is a genetic disorder of the connective tissue which primarily affects the ocular or eye, musculoskeletal and cardiovascular system. まとめに…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 25:15～28:47 The general management for individuals with Marfan syndrome includes exercise restriction. Typically exercise restriction includes avoiding any high-impact exercises, any w…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 23:27～25:14 Cardiovascular surveillance as I mentioned because of these concerns of progressive enlargement of the aorta and possible risk for dissection. Regular surveillance and imag…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 21:55～23:25 The revised Ghent criteria are the method by which we make a clinical diagnosis of Marfan syndrome and really what has become of these criteria is that aortic dilation or e…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 19:19～21:54 So making a diagnosis, well, is one would hope and one would recommend that the diagnosis is made early and as accurately as possible. 患者さんは診断が付くことを望みますが…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 17:48-19:18 Additional systems that can be involved are the skin. Striae or stretch marks are frequent finding. 皮膚にも影響が出ることがあります。皮膚線条（ストレッチマーク）が多い所見…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 15:16-17:48 Pulmonary findings are also frequent. 呼吸器の所見も頻繁に見られます。 One of the most when the most frequently discussed one findings is a pneumothorax.This is a sudden lun…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 13:37-15:15 Another system that is frequently affected in Marfan syndrome is the ocular or the eye. 眼にも影響があります。 Myopia or nearsightedness is a common feature. I like this par…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 10:47～13:36 Other systems that can be involved are the bones and joints. 他にマルファン症候群の影響を受ける部位としては、骨・関節があります。 Individuals with Marfan syndrome are typic…

n系Marfan 101 9/12/18 (Virtual Medical Symposium Series) 7:07～10:43 Now, the heart and blood vessels are typically what we see with Marfan syndrome. It's progressive aortic enlargement. マルファン症候群では一般的に心臓・血管に所見がありま…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 5:20～7:06 So, what are some of the signs of Marfan syndrome? では、マルファン症候群の兆候とはどのようなものなのでしょうか？ Well, the features can be present at birth.Typically, when t…

Marfan 101 9/12/18 (Virtual Medical Symposium Series) (3:32～5:19) So, to start out, Marfan syndrome is a genetic disorder that affects the body's connective tissue. The connective tissue is a substance that's made up of lots of different …

Marfan 101 9/12/18 (Virtual Medical Symposium Series) セミナー資料： https://info.marfan.org/hubfs/Marfan%20101%20Webinar%20final%20-%20Young.pdf 2:34～3:31 So, today as Eileen had mentioned, it's basically an overview of Marfan syndrome u…

How do you monitor a valve which has been replaced? There are several ways to know if the valve is working well and the easiest way is with an echocardiogram which is a simple ultrasound test that can be done just by putting, putting a lit…

How does the Dacron graft replace the aorta? So, this is the type of Dacron graft that, that we use for this operation. これが、手術で使うダクロンの実物です。 It's about the size of normal aorta and this little bulge area here is where the…

マルファン症候群の情報は、日本語よりも英語の方が充実しています。以下のリストから知りたい項目の英訳を見つけて Google や Youtube 等で検索してみてください。 例えば、ベントール術について知りたければ、Youtube で「Bentall procedure」と入力すると…

How long does the aortic surgery take? The operation can take four or five hours; the average is about four hours. 手術は4～5時間かかります。平均だと4時間ぐらいです。 Most people right after the surgery will go to an intensive care unit an…

How many Marfan patients need heart surgery? Most people with Marfan syndrome do not need an operation on their aorta or their aortic valve. ほとんどのマルファン症候群の患者さんは、大動脈や大動脈弁の手術の必要はありません。 But because it'…

How quickly do children recover from aortic surgery? Young people have an amazing ability to heal, I think. 子供の回復力には目を見張るものがあります。 The first day or so after the surgery, they they're, they're not, happy just like most p…

How safe is aortic root replacement surgery? Overall, the the chance of a very serious complication from surgery whether it's dying or possibly having a stroke is less than 1%, which means it's less than one out of a hundred people who hav…

What are the options for valve replacement? If the valve needs to be replaced, which most of the time we don't need to do, then there are a couple of different options here. 大抵の場合、弁置換の必要はないのですが、もし必要な場合にはいくつ…