Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
Brigham and Women's Hospital · Howard Hughes Medical Institute · +30 more institutions
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…
Citation impact
- FWCI
- 42.39
- Percentile
- 100%
- References
- 32
Authors
35- JSJames S. WareCorresponding
Brigham and Women's Hospital, Howard Hughes Medical Institute, Harvard University, National Institute for Health and Care Research, Lung Institute, NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Imperial College London
- JLJian Li
Cardiovascular Institute of the South, University of Pennsylvania
- EMErica Mazaika
Brigham and Women's Hospital, Harvard University
- CMChristopher M. Yasso
Harvard University
- TDTiffany DeSouza
Cardiovascular Institute of the South, University of Pennsylvania
Topics & keywords
- Dilated cardiomyopathy
- Peripartum cardiomyopathy
- Medicine
- Titin
- Cardiomyopathy
- Internal medicine
- Population
- Cardiology
- Good health and well-being