Linschoten, M; Teske, AI; Baas, AF; Vink, A; Dooijes, D; Baars, HF; Asselbergs, FW; (2017) Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy. Journal of Cardiac Failure , 23 (6) pp. 476-479. 10.1016/j.cardfail.2017.03.003.

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Abstract

Chemotherapy-induced cardiomyopathy (CCMP) is a complication of chemotherapy treatment occurring in 9% of patients treated with the use of anthracyclines. Currently, risk stratification is based on clinical risk factors that do not adequately account for variable individual susceptibility. This suggests the presence of other determinants. In this case series, we describe 2 women with breast cancer who developed severe heart failure within months after chemotherapy. Genetic screening revealed truncating frameshift mutations in TTN, encoding the myofilament titin, in both women. To our knowledge, this is the 1st report of an association between truncating TTN variants and CCMP. Because truncations in TTN are the most common cause of familial and sporadic dilated cardiomyopathy, further research is needed to establish their prevalence in patients presenting with CCMP.

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