Apical Hypertrophic Cardiomyopathy in ATTR Val142Ile Carrier: When Genes and Phenotype Diverge. Journal Abstract - Guideline Central

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

Published: 2026 May 25

Authors

, , , , , , ,

Abstract

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.

Keywords: cardiac magnetic resonance, cardiomyopathy, left ventricle

Source

JACC. Case reports

Publication Type

Case Reports

Language

English

PubMed ID

42183807

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