Applying AHA's 2024 Scientific Statement: Navigating Diagnosis & Management of Pediatric Aortopathy
9:30-11:30
So just to give some highlights, this is big picture taking a step back of the Imaging table here. We'll do a zoom up, but the Imaging table basically characterizes, so across the top says do we have no dilation, it's based on the degree of dilation of the aortic root or the ascending aorta. So do we have none, mild, moderate or severe? For kids under 16, this is based on a z-score. If we go back, for kids over 16, it's based on absolute dimension in centimeters, but under 16 is based on the z-score.
重要なポイントに絞って説明したいと思います。こちらは画像検査についてまとめた表です。大きな表ですので一部のみを拡大してお見せします。一番上の行は大動脈基部あるいは上行大動脈の拡張の程度を表しており、左から「拡張なし（Zスコア<2／実測値<3.5）」、「軽度（2≦Zスコア<3.5／3.5≦実測値<4）」、「中度（3.5≦Zスコア<5／4≦実測値<4.5）」、「重度（5≦Zスコア／4.5≦実測値）」となっています。拡張の程度は、16歳未満のお子さんについては、Zスコア、16歳以上のお子さんでは、実測値（cm）に基づきます。
And then we have each condition kind of labeled in the table. So this is an example showing Loeys-Dietz type 1, 2, 3, 4 and 5, and then there's a color code saying how often they should be imaged based on the dilation. So if you look at Loeys-Dietz type 1 and 2 caused by variants in TGFBR1 and TGFBR2, if they have severe dilation, this is a z-score greater than or equal to five, they should be seen every 3 to 6 months with imaging.
一番左の列に原因遺伝子の名前が並んでいます。ここでは、ロイス・ディーツ症候群（LDS）を例に説明します。原因遺伝子は、それぞれLDS1型からLDS5型に対応しています。セルの色はどのくらいの頻度で画像検査を受ければいいかを表します。例えば、LDS1型（TGFBR1）およびLDS2型（TGFBR2）で、拡張が重度の場合（Zスコア5以上）は、3〜6ヶ月おきに画像検査を受ける、となっています。
And you'll see there's a lot of these little footnotes, and so this has a star and it says, by the way, surgery is recommended at aortic diameter, absolute aortic diameter of 4 to 4.5. So if you have a z-score above five but you're hitting four, it's probably already time for surgery.
脚注には、大動脈径の実測値が4〜4.5cmで手術が推奨されると記載があります。つまり、Zスコアが5を超えていても、実測値が4cmに到達していれば、手術のタイミングということになります。
And then this table is moved. So this has a really nice long table going through again all the different kinds of aortopathy and how often to image. So this is at the lower part of the table. This is showing some of the rarer conditions: FLNA, the EFEMP2, and arterial tortuosity syndrome which are ultra-rare, bicuspid valve, patients who we think that there's a hereditary thoracic aortic disease which is what we're calling aortopathy here, and congenital heart disease. And these are much more controversial, and so we have guidance on how often to image them as well.
表の下の方に移動すると、FLNAやEFEMP2を原因遺伝子とする稀な疾患、非常に珍しい動脈蛇行症候群、二尖大動脈弁、遺伝性胸部大動脈疾患が疑われる疾患、先天性心疾患などが並んでいます。これらの疾患は議論の対象となるので、画像検査の頻度についての記載があります。
All right, we're going to move to the genetic testing part and I'm going to pass it off to Dr. Lacro.
次の遺伝子検査については、Lacro先生にお願いします。
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。
