What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020)
27:42-28:46
You know, some other places where you have noticed some variability that has helped us to kind of figure out different guidelines to take care of people better are in the cardio-thoracic surgery arena.
LDSの原因遺伝子のタイプによって、手術適応となる大動脈の太さが変わります。
And so again in general we usually think of moving forward with aortic root surgery and Loeys-Dietz types 1, 2 and 3 at smaller dimensions. We've seen people dissect on their aortas at around three point nine to four centimeters so that's why we usually use that as a threshold whereas in types Loeys-Dietz four and five we think of aortic diameters that can get a little bit, bigger maybe up to 4.5 or so.
一般にLDS1~3型では、より小さな大動脈径での手術を検討します。これまで、約3.9~4.0cmで大動脈解離を発症した症例を複数経験していますので、手術適応となる大動脈径は4.0cmとしています。一方、LDS4型、5型では、多少大きなサイズでも問題ないと考えられており、4.5cmです。
But this is really where your family history becomes very important so were there people in your family who the aortas got to five centimeters and didn't dissect or were there people who did dissect at 4.2 centimeters.
とはいえ、手術を検討する上で非常に重要とされるのは家族歴です。5cmでも解離が起こらなかった人がいたか、あるいは4.2cmでも解離した人が家系にいたか、といった情報です。
For those individuals who have large families and can get that cardiac data that can help us kind of tailor care to you and also just looking at your specific gene variant and seeing do we have other patients and how did they present.
患者さんの家系が大規模で、その家系の心臓に関するデータを入手できるようであれば、その患者さんに応じた治療を検討する助けになりますし、変異遺伝子についての詳細やその変異遺伝子をもつ他の患者さんのケースなども比較しながら、心臓手術を検討することになります。
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。