Wu Chao, Yang Xu, Zhang Huimin, Song Yunhu
Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Bei Li Shi Road 167, Beijing 100037, China.
Department of Hypertension, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Bei Li Shi Road 167, Beijing 100037, China.
Eur Heart J Case Rep. 2021 Feb 20;5(2):ytab025. doi: 10.1093/ehjcr/ytab025. eCollection 2021 Feb.
Pheochromocytoma and paraganglioma is a rare disease with a prevalence of 0.2-0.6% in hypertensive patients from outpatient.
A 21-year-old man complained of blood pressure elevation over one year and persistent hyperhidrosis near 5 years. In local hospital, a mass in the pericardial space with abundant blood flow was observed via echocardiography and confirmed under minimally invasive thoracotomy. With suspicion of malignant cardiac mass, the patient was recommended to transfer for further diagnosis and treatment. Combining evaluation for blood and urinary catecholamine levels, somatostatin receptor imaging, and iodine-131 metaiodobenzylguanidine scintigraphy, he was confirmed with the diagnosis of cardiac paraganglioma with blood supply from the right coronary artery identified via angiography. The cardiac tumour was then surgically resected and confirmed with a pathological diagnosis of paraganglioma. Subsequent genetic test suggested succinate dehydrogenase complex iron sulfur subunit B (SDHB) gene mutation. At 5-month follow-up, the patient was recovered with normal levels of blood catecholamines and catecholamine metabolites.
Cardiac paraganglioma should be considered and evaluated in hypertensive patients with cardiac mass, even in non-typical population. Given a potential risk of developing malignancies, close follow-up is significant in patients with SDHB gene mutations.
嗜铬细胞瘤和副神经节瘤是一种罕见疾病，在门诊高血压患者中的患病率为0.2 - 0.6%。
一名21岁男性主诉血压升高超过一年，近5年持续多汗。在当地医院，经超声心动图检查发现心包腔内有一血流丰富的肿块，并在微创开胸手术中得到证实。因怀疑为恶性心脏肿块，建议患者转院进一步诊治。结合血液和尿液儿茶酚胺水平评估、生长抑素受体显像及碘-131间碘苄胍闪烁显像，经血管造影确定其心脏副神经节瘤由右冠状动脉供血，诊断得以明确。随后对心脏肿瘤进行手术切除，病理诊断为副神经节瘤。后续基因检测提示琥珀酸脱氢酶复合物铁硫亚基B（SDHB）基因突变。随访5个月时，患者康复，血液儿茶酚胺和儿茶酚胺代谢产物水平正常。
即使在非典型人群中，对于有心脏肿块的高血压患者也应考虑并评估心脏副神经节瘤。鉴于存在发生恶性肿瘤的潜在风险，对SDHB基因突变患者进行密切随访具有重要意义。
