![]() Among 9 prioritized genes, patients with CCM had more rare protein-altering variants than comparative cohorts (P <= 1.98e-04). ![]() Adult patients with CCM had cardiovascular risk factors similar to the US population. Results: CCM was diagnosed 0.4 to 9 years after chemotherapy 90% of these patients received anthracyclines. A prevalent CCM genotype was modeled in anthracycline-treated mice. Clinical characteristics and outcomes were assessed and stratified by genotypes. ![]() The prevalence of rare variants was compared between CCM cohorts and The Cancer Genome Atlas participants (n=2053), healthy volunteers (n=445), and an ancestry-matched reference population. Cardiomyopathy genes, including 9 prespecified genes, were sequenced. Methods: We studied 213 patients with CCM from 3 cohorts: retrospectively recruited adults with diverse cancers (n=99), prospectively phenotyped adults with breast cancer (n=73), and prospectively phenotyped children with acute myeloid leukemia (n=41). We hypothesized that rare variants in cardiomyopathy genes contribute to CCM. These parameters incompletely account for substantial interindividual susceptibility to CCM. DOI: 10.1161/CIRCULATIONAHA.118.037934īackground: Cancer therapy-induced cardiomyopathy (CCM) is associated with cumulative drug exposures and preexisting cardiovascular disorders. Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy. Garcia-Pavia, Pablo Kim, Yuri Alejandra Restrepo-Cordoba, Maria Lunde, Ida G. Lara-Pezzi, Enrique Provencio, Mariano Lyon, Alexander R. de Marvao, Antonio Ahmad, Mian Manuel Garcia-Pinilla, Jose Pantazis, Antonis Dominguez, Fernando Baksi, A. Govind, Risha Nunez, Beatriz Mazaika, Erica Bayes-Genis, Antoni Walsh, Roddy Finkelman, Brian Lupon, Josep Whiffin, Nicola Serrano, Isabel Midwinter, William Wilk, Alicja Bardaji, Alfredo Ingold, Nathan Buchan, Rachel Tayal, Upasana Pascual-Figal, Domingo A. Getz, Kelly Gorham, Joshua Patel, Parth Ito, Kaoru Willcox, Jonathan A.
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