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Internist (Berl) ; 57(6): 610-5, 2016 Jun.
Artículo en Alemán | MEDLINE | ID: mdl-27114237

RESUMEN

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.


Asunto(s)
Bevacizumab/administración & dosificación , Pruebas Genéticas/métodos , Cardiopatías Congénitas/diagnóstico , Insuficiencia Cardíaca/diagnóstico , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Telangiectasia Hemorrágica Hereditaria/tratamiento farmacológico , Anciano , Inhibidores de la Angiogénesis/administración & dosificación , Diagnóstico Diferencial , Ecocardiografía Transesofágica/métodos , Epistaxis/diagnóstico , Femenino , Cardiopatías Congénitas/genética , Insuficiencia Cardíaca/genética , Humanos , Telangiectasia Hemorrágica Hereditaria/genética
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