The prevalence of homozygotes for the Val142Ile genetic variant in the transthyretin (TTR) gene is extremely low in the general population (0.72%). This prevalence is slightly higher in endomyocardial biopsy studies (6% to 10%) and in cohorts involving reference centers for TTR cardiac amyloidosis (4% to 14%)., Homozygotes represent a distinct subpopulation within the spectrum of cardiac amyloidosis, with clinical characteristics that appear to differ substantially from those of heterozygotes. This genetic variation has been associated with an onset of […]

Introduction Amyloidosis is a disease characterized by extracellular deposition of insoluble proteins resulting in organ dysfunction. There are more than 30 known proteins capable of aggregating into amyloid fibrils; among these, amyloidosis due to light chain (AL) immunoglobulin and transthyretin amyloidosis (ATTR) represent 98% of cardiac amyloidosis. Transthyretin (TTR) is a tetrameric protein whose function is to transport thyroxine and retinol-binding protein. It is primarily produced in the liver, with smaller quantities found in the choroid plexus and retinal pigment […]