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Mamoun Elnagar, Reto Kurmann, Sorin V Pislaru, Rekha Mankad, Unusual presentation of Ehlers–Danlos with arteriovenous malformations, European Heart Journal - Cardiovascular Imaging, Volume 21, Issue 5, May 2020, Page 585, https://doi.org/10.1093/ehjci/jez259
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Extract
A 33-year-old woman with a history of radical thyroidectomy for papillary thyroid carcinoma presented with a year long history of dizziness and fatigue, which progressed to the point of limited activity. Additionally, she reported significant orthostatic presyncopal symptoms. At an outside institution, she was found to have thoracic arteriovenous malformations (AVM) by magnetic resonance imaging. Her orthostatic symptoms were labelled postural orthostatic tachycardia syndrome. Transthoracic echo showed multiple areas of colour Doppler flow located on the lesser curvature of the aortic arch, consistent with a small intrapulmonary shunt (Panel A (arrows), Supplementary data online, Video S1). A later computed tomography (CT) showed prominent bronchial collateral vessels in the mediastinum and right hilum with mild focal enlargement of lower lobe branches of the right pulmonary artery, as well as an anomalous right subclavian artery from the posterior aortic arch with a retro-oesophageal course (Panel B (arrow), Supplementary data online, Video S2). The patient was offered treatment and opted for embolization which was performed on a tortuous bronchial arterial branch. Unfortunately, a follow-up CT a year later showed no significant interval change in the systemic to right pulmonary artery malformation/fistula, with systemic supply arising predominantly from the right internal mammary and an ectopic bronchial artery branch arising from the upper right subclavian artery. The AVM prompted screening for connective tissue disease, and the patient was found to meet clinical criteria for Ehlers–Danlos syndrome, hypermobility type.