一例罕见的血管源性心房囊肿：病例的遗传学见解

A Rare Intra-Atrial Cyst of Vascular Origin: Genetic Insights From a Case.

作者信息

Wang Tingting, Zhang Yuhang, Qiao Shuai, Han Yongyong, Liu Tong, Chen Kangyin, Chen Tienan, Fu Huaying

机构信息

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.

出版信息

JACC Case Rep. 2025 Sep 3;30(26):104910. doi: 10.1016/j.jaccas.2025.104910.

DOI:10.1016/j.jaccas.2025.104910

PMID:40912850

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12426665/

Abstract

BACKGROUND

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.

CASE SUMMARY

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.

DISCUSSION

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.

摘要