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A publication of the Cardiovascular Imaging Department of the Brazilian Society of Cardiology
Uma publicação do Departamento de Imagem Cardiovascular da Sociedade Brasileira de Cardiologia
DOI: 10.36660/abcimg.20240116i
Abstract Background: Transthyretin (TTR) amyloid cardiomyopathy associated with the VAL142Ile variant typically presents in patients in their sixth or seventh decades of life. It is among the most common hereditary forms of cardiac amyloidosis. This study aims to characterize the clinical, laboratory, and echocardiographic features observed in patients with the VAL142Ile variant, contributing to a deeper understanding of the phenotypic expression of this genetic variant. Method: Cross-sectional study of 31 patients diagnosed with HF due to transthyretin amyloidosis (ATTR) VAL142IIe. […]
Keywords: Cardiac amyloidosis due to transthyretin; genetic variant Val142Ile; Heart failure