Ischemic stroke due to sporadic and genetic pulmonary arteriovenous malformations: case report

Pulmonary arteriovenous malformations (PAVMs) encompass congenital and genetic vascular anomalies characterized by complex interlacing of arteries and veins connected by fistulas, which allow rapid and continuous extracardiac right-to-left shunting (RLS). Presenting neurologic manifestations of PAVM include brain abscess and stroke, as the consequence of paradoxical embolism. Although rare, PAVM represents an overlooked cause of cryptogenic ischemic stroke in young adults, being misdiagnosed as patent foramen ovale and a preventable trigger of silent cerebral ischemic changes. In the emergency clinical setting, the recommended ischemic stroke workup in patients with RLS should include the influence of postural changes and the effect of Valsalva maneuver on the entity of the RLS on contrast-enhanced transcranial color Doppler ultrasound and the delay in the right inferior pulmonary vein and left heart opacification on contrast-enhanced transthoracic echocardiography. This is in addition to the evaluation of chest X-rays or thoracic computed tomography. We here describe two patients with ischemic stroke due to sporadic and genetic PAVM-associated paradoxical embolism.