Antevil Jared, Umakanthan Ramanan, Leacche Marzia, Brewer Zachary, Solenkova Natalia, Byrne John G, Greelish James P
Vanderbilt Heart & Vascular Institute, Nashville, Tennessee, USA.
J Heart Valve Dis. 2009 May;18(3):349-51.
A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The mitral valve leaflet was myxomatous and calcified -- an unusual find in such a patient. An ophthalmology consultation was obtained and the patient diagnosed with Axenfeld-Rieger syndrome, a disorder of the anterior ocular chamber that has been associated with cardiac malformations. The present case report adds to the body of literature which suggests a correlation between Axenfeld-Rieger syndrome and valvular abnormalities. Hence, it is believed prudent that patients with Axenfeld-Rieger syndrome should undergo echocardiographic screenings for valvular abnormalities.
一名33岁、既往健康的男性因呼吸窘迫接受了插管治疗。体格检查发现全收缩期杂音和瞳孔异常。超声心动图显示二尖瓣前叶连枷样改变伴腱索断裂及严重二尖瓣反流。患者接受了紧急二尖瓣置换术，手术耐受性良好。二尖瓣叶呈黏液瘤样并钙化，这在该患者中是不寻常的发现。患者接受了眼科会诊，被诊断为Axenfeld-Rieger综合征，这是一种眼前房疾病，与心脏畸形有关。本病例报告补充了文献资料，提示Axenfeld-Rieger综合征与瓣膜异常之间存在相关性。因此，认为Axenfeld-Rieger综合征患者应接受超声心动图检查以筛查瓣膜异常是谨慎的做法。
