Apical Hypertrophic Cardiomyopathy in ATTR Val142Ile Carrier: When Genes and Phenotype Diverge

Abstract

Background

Pathogenic transthyretin (TTR) variants, such as V142I, demonstrate incomplete, age-dependent penetrance and may be present in patients without clinical transthyretin cardiac amyloidosis cardiomyopathy (ATTR-CM). Distinguishing true ATTR-CM from phenocopies like apical HCM (ApHCM) is critical to guide management.