Association of Transthyretin Val122Ile Variant With Incident Heart Failure Among Black Individuals

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Abstract
Hereditary amyloidosis is an inherited condition characterized by extracellular deposition of amyloid protein in multiple tissues, such as the myocardium, nervous tissue, and the kidneys, resulting in their dysfunction.1-3 Hereditary transthyretin amyloidosis (hATTR) is characterized by misfolding of the tetrameric transthyretin protein complex that accumulates as extracellular amyloid fibrils and results in polyneuropathy, heart failure, and arrhythmias.1-3 A variation in the TTR gene results in a substitution from valine to isoleucine amino acid at position 122 (rs76992529; Val122Ile), leading to the misfolding of the transthyretin protein and its eventual extracellular deposition in the myocardium, causing hATTR cardiomyopathy (hATTR-CM).1-5

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