A Case of a Pulmonary Arteriovenous Malformation With Ebstein's Anomaly

ABSTRACT

A pulmonary arteriovenous malformation (PAVM) is a rare pulmonary vascular anomaly presenting as dyspnea or recurrent epistaxis. Ebstein's anomaly (EA), a congenital cardiac malformation, is also a rare condition. There have been no reports concerning the co-existence of PAVM with hereditary hemorrhagic telangiectasia (HHT) and EA. A 40-year-old woman was admitted with a 2-month history of increasing dyspnea and several years of recurrent epistaxis. On transthoracic echocardiography, she was diagnosed with EA and agreed to undergo surgical treatment. A chest CT angiography showed a 12-mm serpiginous vascular structure suspicious for a PAVM and a liver CT suggested HTT. Although it is unclear whether or not a concurrent PAVM and EA have an embryologic or genetic relationship, we report a case of a PAVM with EA. Further genetic and embryonic studies are needed to identify a possible relationship of the two medical conditions.