Wang Tingting, Zhang Yuhang, Qiao Shuai, Han Yongyong, Liu Tong, Chen Kangyin, Chen Tienan, Fu Huaying
Department of Cardiology, Tianjin Key Laboratory of Ionic-Molecular Function of Cardiovascular Disease, Tianjin Institute of Cardiology, The Second Hospital of Tianjin Medical University, Tianjin, China.
Department of Cardiovascular Surgery, Second Hospital of Tianjin Medical University, Tianjin, China.
JACC Case Rep. 2025 Sep 3;30(26):104910. doi: 10.1016/j.jaccas.2025.104910.
Intra-atrial cysts are rare and often mistaken for neoplastic lesions. Vascular-origin cysts are even more uncommon. Limited genetic data hamper understanding of their pathogenesis and management.
A 64-year-old man was referred for evaluation of an incidentally detected right atrial mass. Echocardiography suggested a hemorrhagic cyst. Surgical excision and histopathology confirmed a vascular malformation, with CD34 and smooth muscle actin positivity, elastic fibers demonstrated on special staining. Genetic testing revealed a pathogenic TSC2 mutation. The patient underwent successful mass resection and tricuspid annuloplasty with uneventful recovery.
This case highlights a rare intra-atrial blood cyst associated with TSC2 mutation, suggesting a genetic basis for vascular malformations. TSC2 screening may help differentiate benign from malignant cardiac lesions, especially those with hemorrhagic features. In selected cases, image-guided aspiration could be a less-invasive alternative to surgery.
TAKE-HOME MESSAGE: TSC2 genetic testing may improve diagnosis and guide treatment strategies for atypical cardiac vascular lesions.
心房囊肿罕见，常被误诊为肿瘤性病变。血管源性囊肿更为少见。有限的基因数据阻碍了对其发病机制和治疗的理解。
一名64岁男性因偶然发现的右心房肿块前来评估。超声心动图提示为出血性囊肿。手术切除及组织病理学检查证实为血管畸形，CD34和平滑肌肌动蛋白呈阳性，特殊染色显示有弹性纤维。基因检测发现致病性TSC2突变。患者成功进行了肿块切除及三尖瓣环成形术，恢复顺利。
本病例突出了一种与TSC2突变相关的罕见心房血性囊肿，提示血管畸形存在遗传基础。TSC2筛查可能有助于区分心脏良性与恶性病变，尤其是那些具有出血特征的病变。在某些病例中，影像引导下抽吸可能是一种比手术侵入性更小的替代方法。
TSC2基因检测可能改善非典型心脏血管病变的诊断并指导治疗策略。
