Namirah Nabila Azka, Nugraha Naufal Fakhri, Nadiah Zahra, Haryawan Zahran Lazuardi, Panggabean Abednego
Pameungpeuk Regional General Hospital, Garut, West Java, Indonesia.
Universitas Padjadjaran Hospital, Sumedang, West Java, Indonesia.
Glob Cardiol Sci Pract. 2025 Feb 28;2025(1):e202501. doi: 10.21542/gcsp.2025.1.
Pulmonary arteriovenous malformations (PAVMs) is a rare condition involving an abnormal connection of the pulmonary vasculature between the artery and vein, bypassing the capillary structure and causing a right-to-left shunt (RLS) of blood flow. This case report describes a 17-year-old female patient presenting with recurrent nose and tongue bleeding. Cyanosis and clubbing of the fingers were observed, along with visible telangiectasis on the skin and mucosal surfaces. Hereditary hemorrhagic telangiectasis (HHT) was diagnosed based on the Curaçao criteria. The RLS manifestations suggested a high probability of PAVM, confirmed by an agitated saline test showing a positive bubble appearance after four beats from the pulmonary vein to the left ventricle. An increased intraventricular wall diameter (19 mm) with a granular sparkling appearance indicated potential cardiac amyloidosis (CA). Speckle tracking echocardiography (STE) revealed a 'cherry-like' appearance in a 'bull's eye' pattern. This case illustrates a diagnostic approach for PAVM in an adolescent HHT patient with suspected CA in a rural setting using limited resources.
肺动静脉畸形（PAVM）是一种罕见的疾病，涉及肺血管系统中动脉与静脉之间的异常连接，绕过毛细血管结构，导致血流从右向左分流（RLS）。本病例报告描述了一名17岁女性患者，表现为反复鼻出血和舌出血。观察到患者有发绀和杵状指，皮肤和黏膜表面可见毛细血管扩张。根据库拉索标准诊断为遗传性出血性毛细血管扩张症（HHT）。RLS表现提示PAVM可能性高，盐水激发试验证实，从肺静脉到左心室四个心动周期后出现阳性气泡显像。室内壁直径增加（19mm），伴有颗粒状闪光点，提示可能存在心脏淀粉样变性（CA）。斑点追踪超声心动图（STE）显示“靶心”模式呈“樱桃样”外观。本病例说明了在资源有限的农村地区，对一名疑似CA的青少年HHT患者进行PAVM诊断的方法。
