Byard R W, Smith N M, Bourne A J
Department of Histopathology, Adelaide Children's Hospital, Australia.
J Forensic Sci. 1991 Jul;36(4):1229-33.
Cardiac rhabdomyomas are rare lesions forming part of the tuberous sclerosis complex that may be responsible for sudden death. As well as remaining clinically occult for variable periods of time, they may, along with other manifestations of tuberous sclerosis, be quite difficult to detect clinically and pathologically. A patient is described in whom multiple cardiac rhabdomyomas were an incidental finding at autopsy following fatal potassium fluoride poisoning. Other gross pathological lesions typical of tuberous sclerosis were present but were quite subtle in appearance. Awareness of the association of cardiac rhabdomyomas with tuberous sclerosis is important so that full examination of organ systems for characteristic lesions can be undertaken during the autopsy, and so that fresh and frozen tissue can be obtained at the time of dissection for further investigation.
心脏横纹肌瘤是构成结节性硬化症复合体的罕见病变,可能导致猝死。除了在不同时间段内临床上隐匿外,它们可能与结节性硬化症的其他表现一起,在临床和病理上很难检测到。本文描述了一名患者,其在致命的氟化钾中毒后尸检时偶然发现多个心脏横纹肌瘤。结节性硬化症典型的其他大体病理病变也存在,但外观相当细微。认识到心脏横纹肌瘤与结节性硬化症的关联很重要,这样在尸检时就可以对器官系统进行全面检查以寻找特征性病变,并且在解剖时可以获取新鲜和冷冻组织进行进一步研究。