Transcatheter occlusion of complex pulmonary arteriovenous malformations in a cyanotic child

Abstract

This case report presents a 16-month-old boy with isolated mild cyanosis diagnosed to have complex pulmonary arteriovenous malformations. Three-dimensional computed tomography with volume rendering has provided the diagnosis, enabled detailed imaging, and facilitated transcatheter device occlusion of the complex arteriovenous malformations by vascular plugs and coils. Magnetic resonance of the brain revealed associated dural arteriovenous malformation. Genetic testing showed a missense disease-causing variant in the ENG gene that encodes endoglin, and the diagnosis of hereditary hemorrhagic telangiectasia was made. <Learning objective: The initial clinical presentation of isolated mild cyanosis in a child with pulmonary arteriovenous Malformations (PAVMs) has led to the diagnosis of hereditary hemorrhagic telangiectasia may pose a diagnostic challenge. The use of three-dimensional computed tomography with volume rendering enables the diagnosis of complex PAVMs and facilitates the planning of transcatheter device occlusion.>