A woman with cystic fibrosis, severe hypoxaemia, an atrial thrombus and a patent foramen ovale: a case report
A woman with cystic fibrosis, severe hypoxaemia, an atrial thrombus and a patent foramen ovale: a case report
Journal of Medical Case Reports 2009, 3:8582
Published: August 2009
Published: August 2009
Introduction: Cystic fibrosis is usually associated with chronic pulmonary sepsis and frequent infective exacerbations. We report a very unusual cause of severe hypoxaemia in a woman with cystic fibrosis caused by thrombus formation in the right atrium.
Case presentation: A 21-year-old Caucasian woman with cystic fibrosis and a totally implantable venous access device presented with severe hypoxaemia. This was initially treated with antibiotics but her oxygen levels did not improve significantly. Subsequently, a transient ischaemic attack occurred. Further investigations, including a contrast echocardiogram and a cardiac magnetic resonance scan, revealed the presence of a large right atrial thrombus and right-to-left intracardiac shunt through a patent foramen ovale.
Conclusion: This case highlights the need to consider a right-to-left shunt in chronic respiratory diseases when hypoxaemia is out of proportion to the degree of lung function impairment. Totally implantable venous access devices should always be considered as a source of thrombus formation.
Introduction
Cystic fibrosis (CF) is an autosomal, recessively inherited disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is common in Caucasian populations, giving rise to an incidence of approximately 1 in 2000 newborns. It has a predilection for the lungs and gastrointestinal tract, commonly manifesting as bronchiectasis and malabsorption secondary to pancreatic insufficiency. Progressive hypoxaemia occurs as a result of pulmonary sepsis and associated obstruction of the airways 1. Despite being a chronic inflammatory condition with a purported increased incidence of thrombophilia 2,3, thromboembolic disease is rarely reported except inassociation with totally implantable venous access devices (TIVADs) 4-8 which are often insertedwhen frequent courses of intravenous antibiotics are required. We describe a patient where a number of seemingly unrelated symptoms shared a mutual aetiology, presenting with severe hypoxaemia that was disproportionately low for her magnitude of pulmonary disease; investigations revealed a right-to-left intracardiac shunt as a result of a patent foramen ovale (PFO) and a right atrial thrombus.
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