SDHB基因错义突变致心脏副神经节瘤一例  

Cardiac paraganglioma caused by a missense mutation of SDHB gene:a case report

作　　者：郑飞 徐瑞 曾正陪[2] 刘春雷 段艳华 程召平 孙青 刘群 王明华 韩鹏熙 王月兰 王建宁 黄文 郭晓红 杨晓庆 Zheng Fei;Xu Rui;Zeng Zhengpei;Liu Chunlei;Duan Yanhua;Cheng Zhaoping;Sun Qing;Liu Qun;Wang Minghua;Han Pengxi;Wang Yuelan;Wang Jianning;Huang Wen;Guo Xiaohong;Yang Xiaoqing(Department of Cardiology,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China;Department of Endocrinology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of PET/CT,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China;Department of Pathology,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China;Department of Cardiac Surgery,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China;Department of Imaging,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China;Department of Anesthesiology,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China;Department of Urinary Surgery,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China;Department of Echocardiography,the First Affiliated Hospital of Shandong First Medical University,Ji'nan 250014,China)

机构地区：[1]山东第一医科大学第一附属医院心内科,济南250014 [2]中国医学科学院,北京协和医学院,北京协和医院内分泌科,100730 [3]山东第一医科大学第一附属医院PET/CT科,济南250014 [4]山东第一医科大学第一附属医院病理科,济南250014 [5]山东第一医科大学第一附属医院心外科,济南250014 [6]山东第一医科大学第一附属医院影像科,济南250014 [7]山东第一医科大学第一附属医院麻醉科,济南250014 [8]山东第一医科大学第一附属医院泌尿外科,济南250014 [9]山东第一医科大学第一附属医院心脏超声科,济南250014

出　　处：《中华内科杂志》2021年第10期910-914,共5页Chinese Journal of Internal Medicine

摘　　要：患者青年女性。以阵发性心悸、多汗、头痛、血压升高为表现,检测儿茶酚胺及代谢产物甲氧基肾上腺素类(MNs)水平增高,基因检测为琥珀酸脱氢酶亚基B(SDHB)错义突变,影像学检查发现由冠状动脉左回旋支供血的纵隔肿瘤(40 mm×38 mm),经充分药物准备后在体外循环下行肿瘤手术切除,术后病理确诊为心脏副神经节瘤。患者术后3个月随诊复查血压、MNs正常,并对其家系进行了研究追随。

关 键 词：副神经节瘤 心脏 SDHB基因 突变 

分 类 号：R732.1[医药卫生—肿瘤]