A rare cause of fatal right ventricular cardiac decompensation

Abstract

Hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease often manifesting with epistaxis, telangiectasia, and intraparenchymatous arteriovenous malformations. We report on the case of a 71-year-old man who was admitted to hospital due to a tricuspid valve insufficiency. During the following days, the patient developed liver and renal failure; the clinical condition worsened rapidly. Computed tomographic diagnostics revealed arteriovenous malformations in the lung and in the liver portal. Additionally, mucocutaneous telangiectasia in the mouth was found. Hereditary hemorrhagic telangiectasia was assumed; nevertheless, an effective treatment was impossible because of the patient's worse clinical state; he died a few days later. Autopsy affirmed the diagnosis of hereditary hemorrhagic telangiectasia; molecular genetic analysis revealed a heterozygous mutation in the ALK-1 gene. Despite its relatively high prevalence, hereditary hemorrhagic telangiectasia is not considered as a diagnosis as frequently as it should be, and clinicians need to be aware of the signs of hereditary hemorrhagic telangiectasia as well as the appropriate diagnostic workup.