Pulmonary arteriovenous malformations with suspected infiltrative disease: A case report from a peripheral hospital

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.