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A 50-year-old woman was referred to our cardiology department as part of an investigation for a possible cardiac embolic source of an ischaemic cerebral event. There was a strong maternal family history of hereditary haemorrhagic telangiectasia (HHT). The patient was a non-smoker and was not on the oral contraceptive pill. She presented to her optician with visual loss and was found to have a superior homonymous hemianopia on visual field testing. An MRI of the brain subsequently revealed a small ischaemic infarct of the right calcarine sulcus and she was referred to us by the neurologists to exclude a cardiac cause of possible embolus. There were suboptimal images on initial transthoracic echocardiography, so we proceeded to a transoesophageal study. There was no obvious inter-atrial septal defect on two-dimensional, colour flow or Doppler imaging. However, on injection of right heart contrast, using agitated saline, there was contrast passage into the left heart, although this was delayed approximately four heartbeats after contrast was seen within the right heart (fig 1). This delayed shunt suggested the possibility of pulmonary arterio-venous malformations (AVM). A CT angiogram of the chest confirmed a 2 cm AVM in the right lung base and a smaller one in the left lung (fig 2). These findings together with the patient’s family history and cutaneous telangiectasia on clinical examination allowed a diagnosis of HHT to be made. Interestingly, no cerebral AVMs were detected on MR angiography. The pulmonary AVM lesions were treated with trans-catheter coil embolisation and the patient is currently doing well clinically.
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Competing interests: none.
Patient consent: Patient/guardian consent was obtained for publication.