僧帽弁逸脱による高度僧帽弁逆流，うっ血性心不全を伴った結節性硬化症の1例

A Case of Tuberous Sclerosis Complex Associated with Congestive Heart Failure and Severe Mitral Regurgitation due to Mitral Valve Prolapse

　19歳，女性．生後5カ月にてんかん発作で発症し，結節性硬化症と診断された．当時は心エコー図検査にて心臓腫瘤を認めたが，その後自然退縮し，心不全症状も認めていなかった．19歳時に心不全を発症し，僧帽弁逸脱と高度僧帽弁逆流がみられ，当科入院となった．入院時の心エコー図検査にて左房と右室の拡大と心？液の貯留を認めた．さらに僧帽弁は前尖に広範囲の肥厚と逸脱を認め，カラードプラエコー図では高度の僧帽弁逆流を認めた．結節性硬化症では幼児期の横紋筋腫に伴う心不全や不整脈の報告は多いが，青年期に僧帽弁逸脱による高度僧帽弁逆流を合併し，心不全を発症したとの報告はなく，興味ある症例と考えられた．

A 19 year-old female patient with tuberous sclerosis complex (TSC) was admitted to our hospital because of congestive heart failure. Multiple rhabdomyoma often presents in TSC patients in the neonatal period. In this case, echocardiograms showed mitral valve prolapse with severe mitral regurgitation and a regional wall motion abnormality of the left ventrcle. CT and MRI studies revealed typical calcified subspendymal nodules and bilateral giant renal angiomyolipomas. Symptoms and edema with TSC improved after treatment with a vasodilator, diuretics, and digitalis. As far as we know, this is the first case report of TSC in an adult with cardiac involvement of the mitral valve complex with-out rhabdomyoma.