Article
Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation.
Journal of cardiovascular medicine (Hagerstown, Md.) - 1 Sept 2020
Gospodinova Mariana, Sarafov Stayko, Chamova Teodora, Kirov Andrey, Todorov Tihomir, Nakov Radislav, Todorova Albena, Denchev Stefan, Tournev Ivailo
Abstract excerpt
BACKGROUND: Hereditary transthyretin amyloidosis is a systemic infiltrative disease, caused by a mutation in the transthyretin gene. p.Glu89Gln is the most common mutation in the Balkan countries. METHODS: We evaluated the clinical manifestations, cardiac involvement, morbidity and mortality in 78 patients with p.Glu89Gln mutation, verified through a DNA analysis. Clinical assessment, electrocardiogram and...
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