Update on pulmonary arteriovenous malformations

This review aimed to provide an overview of pulmonary arteriovenous malformations, including the major clinical and radiological presentations, investigation, and treatment algorithm of the condition. The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also known as RenduOsler-Weber syndrome, with mutations in the ENG gene on chromosome 9 (HHT type 1) or in the ACVRL1/ ALK1 complex ( HHT type 2). Epistaxis should always be evaluated when repeated, when associated with anemia, and in some cases of hypoxemia. In the investigation, contrast echocardiography and chest CT are essential for evaluating this condition. Embolization is the best treatment choice, especially for correction in cases of hypoxemia or to avoid systemic infections. Finally, disease management was addressed in special conditions such as pregnancy. CT follow-up should be performed every 3- 5 years, depending on the size of the afferent and efferent vessels, and antibiotic prophylactic care should always be oriented. Ultimately, knowledge of the disease by health professionals is a crucial point for the early diagnosis of these patients in clinical practice, which can potentially modify the natural course of the disease.

Automated summary

This review provides an overview of pulmonary arteriovenous malformations (PAVMs), including their clinical, radiological presentations, investigation, and treatment options. PAVMs are mainly caused by hereditary hemorrhagic telangiectasia (HHT), also known as RenduOsler-Weber syndrome. Epistaxis evaluation is important for patients with repeated nosebleeds, anemia, and hypoxemia symptoms. Contrast echocardiography and chest CT are crucial for evaluating PAVMs. Embolization is the preferred treatment, especially for patients with hypoxemia or to prevent systemic infections. Disease management in special conditions like pregnancy and regular CT follow-up are also discussed. Knowledge of PAVMs by healthcare professionals is crucial for early diagnosis and potentially altering the disease's natural course.