作者
Pablo Garcia-Pavia, Yuri Kim, Maria Alejandra Restrepo-Cordoba, Ida G Lunde, Hiroko Wakimoto, Amanda M Smith, Christopher N Toepfer, Kelly Getz, Joshua Gorham, Parth Patel, Kaoru Ito, Jonathan A Willcox, Zoltan Arany, Jian Li, Anjali T Owens, Risha Govind, Beatriz Nuñez, Erica Mazaika, Antoni Bayes-Genis, Roddy Walsh, Brian Finkelman, Josep Lupon, Nicola Whiffin, Isabel Serrano, William Midwinter, Alicja Wilk, Alfredo Bardaji, Nathan Ingold, Rachel Buchan, Upasana Tayal, Domingo A Pascual-Figal, Antonio De Marvao, Mian Ahmad, Jose Manuel Garcia-Pinilla, Antonis Pantazis, Fernando Dominguez, A John Baksi, Declan P O’Regan, Stuart D Rosen, Sanjay K Prasad, Enrique Lara-Pezzi, Mariano Provencio, Alexander R Lyon, Luis Alonso-Pulpon, Stuart A Cook, Steven R DePalma, Paul JR Barton, Richard Aplenc, Jonathan G Seidman, Bonnie Ky, James S Ware, Christine E Seidman
发表日期
2019/7/2
期刊
Circulation
卷号
140
期号
1
页码范围
31-41
出版商
Lippincott Williams & Wilkins
简介
Background
Cancer therapy–induced cardiomyopathy (CCM) is associated with cumulative drug exposures and preexisting cardiovascular disorders. These parameters incompletely account for substantial interindividual susceptibility to CCM. We hypothesized that rare variants in cardiomyopathy genes contribute to CCM.
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). Cardiomyopathy genes, including 9 prespecified genes, were sequenced. 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. Clinical characteristics and outcomes were assessed and …
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