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

Zhonghua Nei Ke Za Zhi. 2021 Oct 1;60(10):910-914. doi: 10.3760/cma.j.cn112138-20201122-00963.
[Article in Chinese]

Abstract

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。.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Neoplasms*
  • Heart Neoplasms*
  • Humans
  • Mutation
  • Mutation, Missense
  • Paraganglioma* / diagnostic imaging
  • Paraganglioma* / genetics
  • Pheochromocytoma*
  • Succinate Dehydrogenase / genetics

Substances

  • SDHB protein, human
  • Succinate Dehydrogenase