December 1, 2025JACC Advances0 citationsOpen Access

Truncating Titin and Lamin A/C Variants in Anthracycline-Induced Cardiomyopathy

PAPooja Advani AMAlyssa McPherson JRJoseph S. Reddy

Key Points

Three patients with anthracycline-induced cardiomyopathy had variants in TTN and lamin A/C, indicating a genetic component.
Variants in idiopathic dilated cardiomyopathy genes were identified in nearly 17% of the cohort, warranting further study.
Assessment included the examination of potential pathogenic variants related to cardiomyopathy in 18 patients.
Further investigation is necessary to clarify the role of these variants in anthracycline cardiomyopathy.

Abstract

Three of 18 anthracycline CCM patients carried likely pathogenic variants in the most common causative genes for idiopathic dilated cardiomyopathy, TTN, and lamin A/C. Rare nonsynonymous variants in ryanodine receptor 2 and other idiopathic cardiomyopathy genes warrant further investigation.

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