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Genetics and Arteriovenous Malformation

Research from University Hospital yields new findings on genetics and arteriovenous malformation

Published in Hematology Week, November 29th, 2010

2010 NOV 29 -- "A sudden death due to hemothorax caused by spontaneous rupture of a congenital pulmonary arteriovenous malformation (AVM) is reported. A 44-year-old woman died unexpectedly with chest pain and dyspnea," scientists writing in the International Journal of Legal Medicine report.

"The post-mortem examination revealed a massive right-sided hemothorax arising from a subpleural AVM of the upper lobe. There were multiple telangiectases in the tongue and the tonsils, as typically associated with Osier Weber Rendu disease (hereditary hemorrhagic telangiectasia, HHT). The post-mortem molecular genetic analysis proved the presence of a...

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