Multiple Pulmonary Arteriovenous Fistula in a Mother and His Son: A Case Report

Abstract

Multiple Pulmonary Arteriovenous Fistulas (PAVFs) are rare vascular abnormalities in the general population, with a report on 15000 autopsies revealing only 3 cases of multiple PAVFs. However, these abnormal communications between pulmonary arteries and veins are commonly seen in patients with Hereditary Hemorrhagic Telangiectasia (HHT). Several conditions such as cirrhosis, chest trauma, metastatic carcinoma, schistosomiasis, and systemic amyloidosis are accountable for acquired form PAVF. We describe 2 patients (mother and son) with multiple PAVFs and no apparent signs or symptoms suggestive of HHT. A pulmonary artery injection wes performed for Case 1 (mother) and showed bilateral PAVFs with aneurysmal dilation. Given the diagnosis of PAVFs in the mother, we considered the same pathology for the child's symptoms. Therefore, the boy also underwent pulmonary angiography, which revealed multiple bilateral PAVFs. Both patients underwent interventional angiography and the PAVFs were occulted with stainless coil. In conclusion, the presence of multiple PAVFs should be considered in the differential diagnosis of patients with unexplained exertional dyspnea and cyanosis, even in the absence of diagnostic features suggestive of HHT.