疑似磷酸酶及张力蛋白同源物基因变异致遗传性出血性毛细血管扩张症伴全心扩大1例

Hereditary hemorrhagic telangiectasia caused by suspected phosphatase and tensin homolog (PTEN) gene mutation complicated with global cardiomegaly: a case report

摘要

磷酸酶张力蛋白同源物（PTEN）基因变异所致遗传性出血性毛细血管扩张症（HHT）合并全心扩大的病例临床罕见。该文报道 1 例 27 岁男性全心扩大患者，7 年随访中，患者逐渐出现胸闷、憋喘等症状，影像学检查示心影进行性增大、肺动脉高压进展、三尖瓣反流加重并出现脱垂，氨基末端脑利尿钠肽前体（NT-proBNP）水平持续升高。肺及肝动脉 CT 血管成像（CTA）提示肺动脉、肺静脉、肝动脉弥漫性增粗，肝周及胸腹壁迂曲血管影，存在肝动脉-门静脉/肝静脉瘘。基因检测显示为疑似致病变异，经典 HHT 致病基因未见异常。

Abstract

Hereditary hemorrhagic telangiectasia (HHT) caused by phosphatase and tensin homolog (PTEN) gene variation complicated with global cardiac enlargement is clinically rare. Herein, we report a case of a 27-year-old male patient with global cardiac enlargement. During a 7-year follow-up, the patient gradually developed chest distress, dyspnea and other symptoms. Imaging examinations showed progressive cardiomegaly, progressive pulmonary hypertension, aggravated tricuspid regurgitation with subsequent prolapse, and persistently elevated N-terminal pro-brain natriuretic peptide (NT-proBNP) levels. Pulmonary and hepatic artery CT angiography (CTA) revealed diffuse thickening of the pulmonary arteries, pulmonary veins and hepatic arteries, tortuous vascular shadows around the liver as well as in the thoracic and abdominal walls, accompanied by the presence of hepatic artery-portal vein/hepatic vein fistulas. Genetic testing indicated a suspected pathogenic variant, while no abnormalities were detected in the classic HHT-causing genes.

关键词

遗传性出血性毛细血管扩张症 / 磷酸酶及张力蛋白同源物 (PTEN) 基因 / 全心扩大 / 肺动脉高压

Key words

hereditary hemorrhagic telangiectasia / phosphatase and tensin homolog (PTEN) gene / global cardiomegaly / pulmonary arterial hypertension

参考文献

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基金资助

宁夏回族自治区科技惠民专项项目(2024CMG03011)