2回の開心術を必要としたTurner症候群の1例

Turner Syndrome Requiring Two Open Heart Surgeries：Report of a Case

はじめに　Turner症候群は45，X，X短腕の欠失またはそのモザイクなどの核型で，低身長，無月経，翼状頸，外反肘，心大血管異常などの表現型をもつ女性に起こる疾患であり，新生女児の約2,500人に1人がTurner症候群であるといわれている1）．高頻度に発症するとされる心大血管異常は患者の生活の質（QOL）や生命予後に多大な影響を及ぼす合併症であり，特に大動脈瘤や大動脈解離，その破裂に関しては，定期的な画像検査の継続により予防治療の可能性もあることが知られている．

A 55-year-old woman was diagnosed with Turner syndrome following amenorrhea at age 20. Since then, hormone replacement therapy has been used in the obstetrics and gynecology department, but follow-up for cardiovascular disease has not been performed. At age 44, she was taken to our hospital for the first time because of acute aortic dissection and rupture, and urgently underwent total arch replacement. At age 55, she needed aortic valve and ascending aortic replacements for aortic regurgitation, ascending aortic aneurysm, and heart failure caused by the bicuspid aortic valve. Cardiovascular manifestation in Turner syndrome patients is common, and close follow-up using imaging studies may predict emergency diseases that critically affect patient’s life. Medical professionals should inform patients and families of the value of follow-up.