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心脏性猝死中止发作与一名疑似患有代谢性肌病的母亲。

Aborted sudden cardiac death and a mother with suspected metabolic myopathy.

作者信息

Finsterer Josef, Stöllberger Claudia, Keller Hans

机构信息

Krankenanstalt Rudolfstiftung, Vienna, Austria.

2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria.

出版信息

Clin Med Insights Cardiol. 2014 Aug 11;8:67-9. doi: 10.4137/CMC.S16143. eCollection 2014.

Abstract

Aborted sudden cardiac death (SCD) has not been reported as initial manifestation of cardiac involvement in metabolic myopathy (MM). A 20-year-old female with a previous history of three syncopes, hyperhidrosis, and recurrent tick bites experienced aborted SCD. Her mother presented with MM, and a history of pituitary adenoma, nephroptosis, arterial hypertension, depression, migraine, goiter, pancreatitis, osteoporosis, hyperhidrosis, multiple muscle ruptures, and hyperlipidemia. After a few days of disorientation and amnesia, the young female recovered completely. Clinical neurological examination was noticeable for partial ophthalmoparesis and mild hyperprolactinemia. She received an implantable cardioverter defibrillator, which did not discharge so far. Recurrent syncopes and aborted SCD may be the initial manifestation of MM with multiple organ involvement. The family history is important in cases with aborted SCD to guide the diagnostic work-up. Phenotypic heterogeneity between the family members may be an indicator of MM.

摘要

心脏骤停型心源性猝死(SCD)尚未被报道为代谢性肌病(MM)心脏受累的初始表现。一名20岁女性,既往有三次晕厥、多汗和反复蜱叮咬史,经历了心脏骤停型心源性猝死。她的母亲患有MM,并有垂体腺瘤、肾下垂、动脉高血压、抑郁症、偏头痛、甲状腺肿、胰腺炎、骨质疏松症、多汗、多处肌肉拉伤和高脂血症病史。经过几天的定向障碍和失忆后,这位年轻女性完全康复。临床神经学检查发现有部分眼肌麻痹和轻度高催乳素血症。她接受了植入式心脏复律除颤器,目前尚未放电。反复晕厥和心脏骤停型心源性猝死可能是MM伴多器官受累的初始表现。在心脏骤停型心源性猝死病例中,家族史对于指导诊断检查很重要。家庭成员之间的表型异质性可能是MM的一个指标。

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