articleNew England Journal of MedicineJan 6, 2016BRONZE OA

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

Brigham and Women's Hospital · Howard Hughes Medical Institute · +30 more institutions

PubMed
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Abstract

Background Peripartum cardiomyopathy shares some clinical features with idiopathic dilated cardiomyopathy, a disorder caused by mutations in more than 40 genes, including TTN, which encodes the sarcomere protein titin. Methods In 172 women with peripartum cardiomyopathy, we sequenced 43 genes with variants that have been associated with dilated cardiomyopathy. We compared the prevalence of different variant types (nonsense, frameshift, and splicing) in these women with the prevalence of such variants in persons with dilated cardiomyopathy and with population controls. Results We identified 26 distinct, rare truncating variants in eight genes among women with peripartum cardiomyopathy. The prevalence of…

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