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Cerebrovascular Events Secondary to Pulmonary Arteriovenous Malformation Based on Genetic Heterogeneity.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic disorder of angiogenesis characterized by vascular malformations in mucocutaneous tissues, visceral organs, and the central nervous system (1). HHT-related neurological deficits and stroke are observed in 15% of patients and generally occur as a result of a right-to-left shunt induced by pulmonary arteriovenous malformation (PAVM). In patients in whom PAVM and patent foramen ovale (PFO) coexist, both conditions may be responsible for paradoxical embolism. Furthermore, the coexistence of HHT and/ or PFO with inherited hypercoagulable states may identify subjects at higher risk for paradoxical embolism. The coexistence of the three disorders leading to stroke via paradoxical embolism is quite rare and gives important information regarding hereditary predisposition.