A 58-year-old woman with hypoxia, hypoxaemia, a hole in the heart and a … herring! Intracardiac or extracardiac shunt? That is the question!

Abstract

SUMMARYWe describe a case of a previously healthy 58-year-old woman who presented with gradual onset shortness of breath on exertion, erythrocytosis, hypoxia and hypoxaemia. Initial investigations revealed a normal chest radiography and pulmonary function test, however, there was an isolated reduction in diffusion capacity. She was subsequently found to have a patent foramen ovale (PFO) with intermittent shunting. A contrast echocardiography study hinted towards an extracardiac shunt. No shunt was detected in spite of using advanced imaging techniques. A lung biopsy was ultimately performed and histopathology revealed diffuse microvascular pulmonary arteriovenous malformations. This is one of few cases reported of this rare vascular abnormality and highlights its strong genetic association with hereditary haemorrhagic telangiectasia. The diagnostic challenges and management of this unique condition are reviewed in detail. BACKGROUND

A Stroke and a Strange Intrapulmonary Shunt

“…[5][6][7][8] There are a few case reports with the evidence of intrapulmonary shunts on echocardiographic study, that are not identifi able in spite of using advanced imaging techniques. 6,9 The possible diagnosis is microvascular pulmonary arteriovenous malformations (PAVM) that can be diagnosed with lung biopsy if diffuse disease. 1,9 On other hand, an intrapulmonary shunt with dimensions smaller than the acquisition cuts may not be detected on CT.…”

“…6,9 The possible diagnosis is microvascular pulmonary arteriovenous malformations (PAVM) that can be diagnosed with lung biopsy if diffuse disease. 1,9 On other hand, an intrapulmonary shunt with dimensions smaller than the acquisition cuts may not be detected on CT.…”