open access
Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant
Affiliations- Department of Cardiology, University Heart Center, Zurich, Switzerland
- Swiss Dnalysis, Dubendorf, Switzerland
- Department of Cardiology, University Hospital Bern, Bern, Switzerland
- Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland
open access
Abstract
Abstract
About this articleTitle
Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant
Journal
Issue
Article type
Research Letter
Pages
173-175
Published online
2020-07-29
Page views
1092
Article views/downloads
1118
DOI
Pubmed
Bibliographic record
Cardiol J 2021;28(1):173-175.
Authors
Sarah Costa
Argelia Medeiros-Domingo
Alessio Gasperetti
Alexander Breitenstein
Jan Steffel
Federica Guidetti
Andreas Flammer
Katja Odening
Frank Ruschitzka
Firat Duru
Ardan M. Saguner
References (10)- Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med. 2003; 348(17): 1647–1655.
- McKenna WJ, Maron BJ, Thiene G. Classification, epidemiology, and global burden of cardiomyopathies. Circ Res. 2017; 121(7): 722–730.
- McNally EM, Mestroni L. Dilated cardiomyopathy: genetic determinants and mechanisms. Circ Res. 2017; 121(7): 731–748.
- Cerrone M, Colombi B, Santoro M, et al. Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor. Circ Res. 2005; 96(10): e77–e82.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405–424.
- Ohno S, Omura M, Kawamura M, et al. Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction. Europace. 2014; 16(11): 1646–1654.
- Meissner G. The structural basis of ryanodine receptor ion channel function. J Gen Physiol. 2017; 149(12): 1065–1089.
- Tang Y, Tian X, Wang R, et al. Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. Circ Res. 2012; 110(7): 968–977.
- Ullrich ND, Fanchaouy M, Gusev K, et al. Hypersensitivity of excitation-contraction coupling in dystrophic cardiomyocytes. Am J Physiol Heart Circ Physiol. 2009; 297(6): H1992–H2003.
- Bhuiyan ZA, van den Berg MP, van Tintelen JP, et al. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation. 2007; 116(14): 1569–1576.
