| Literature DB >> 27114237 |
E Lücke1, J Schreiber1, M Zencker2, R Braun-Dullaeus3, J Herold4.
Abstract
A 72-year-old female patient presented with increasing dyspnea of unclear origin classified as New York Heart Association stage III (NYHA III). Using transesophageal echocardiography a patent foramen ovale (PFO) and right heart failure could be diagnosed. Right heart catheterization revealed a large left to right shunt due to an arteriovenous malformation in the liver. Because of additional telangiectasia of the lips the presumptive diagnosis was Rendu-Osler-Weber disease. Typical nosebleeds and other symptoms of the disease were lacking and only two out of four Curaçao criteria were positive; therefore, genetic testing was performed, which verified the clinical diagnosis. Off-label use of the angiogenesis inhibitor bevacizumab was initiated as the therapeutic strategy and led to an improvement in the symptomatic dyspnea.Entities:
Keywords: Arteriovenous malformations; Bevacizumab; Dyspnea; Genetic testing; Telangiectasia, hereditary hemorrhagic
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Year: 2016 PMID: 27114237 DOI: 10.1007/s00108-016-0047-5
Source DB: PubMed Journal: Internist (Berl) ISSN: 0020-9554 Impact factor: 0.743