Table 2_Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.pdf

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder. Pulmonary arterial hypertension (PAH) is an uncommon complication (affecting <1% of HHT patients). Here, we report the clinical and imaging findings of a rare case of HHT complicated by PAH in a 41-year-old woman. The patient experienced recurrent exertional dyspnea for over 1 year, accompanied by chest tightness and pain, coughing, and production of white mucus. Her medical history included recurrent epistaxis and bilateral lower extremity edema. Due to persistent symptoms, she was hospitalized for further evaluation. Imaging revealed multiple dilated, tortuous vessels and arteriovenous fistulas in both lower lung lobes and the liver. Additionally, myocardial edema and fibrosis were observed in the ventricular insertion points, interventricular septum, right ventricular inferior wall and left ventricular free wall. Reduced pulmonary artery peak flow velocity, maximal flow, and mean wall shear stress (mWSS) were noted. Right heart catheterization confirmed pre-capillary PAH, and genetic testing identified an ACVRL1 mutation. Symptomatic supportive care was provided during hospitalization. We discussed the relationship between PAH and HHT as well as the characteristics of both conditions.

遗传性出血性毛细血管扩张症（Hereditary hemorrhagic telangiectasia, HHT）是一种罕见的常染色体显性遗传性疾病。肺动脉高压（Pulmonary arterial hypertension, PAH）是其少见并发症，受累HHT患者占比不足1%。本文报道1例41岁女性HHT并发PAH的罕见病例的临床与影像学表现。患者1年余来反复出现劳力性呼吸困难，伴胸闷胸痛、咳嗽及咳白色黏痰。既往史存在反复鼻出血及双下肢水肿。因症状持续存在，患者入院接受进一步评估。影像学检查显示双肺下叶及肝脏可见多发扩张迂曲的血管与动静脉瘘；另在心室插入点、室间隔、右心室下壁及左心室游离壁可见心肌水肿与纤维化。检测发现肺动脉峰值流速、最大流量及平均壁切应力（mean wall shear stress, mWSS）均降低。右心导管检查证实为毛细血管前肺动脉高压，基因检测检出ACVRL1基因突变。住院期间予以对症支持治疗。本文探讨了PAH与HHT的关联及二者的疾病特征。