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Research letter
Published online: 2020-07-29
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Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant

Sarah Costa, Argelia Medeiros-Domingo, Alessio Gasperetti, Alexander Breitenstein, Jan Steffel, Federica Guidetti, Andreas Flammer, Katja Odening, Frank Ruschitzka, Firat Duru, Ardan M. Saguner
DOI: 10.5603/CJ.a2020.0099
·
Pubmed: 32748945

open access

Ahead of print
Research letter
Published online: 2020-07-29

Abstract

Not available

Abstract

Not available
Get Citation

Keywords

dilated cardiomyopathy; ryanodine receptor; familial; truncating variant

About this article
Title

Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant

Journal

Cardiology Journal

Issue

Ahead of print

Published online

2020-07-29

DOI

10.5603/CJ.a2020.0099

Pubmed

32748945

Keywords

dilated cardiomyopathy
ryanodine receptor
familial
truncating variant

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)
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  2. McKenna WJ, Maron BJ, Thiene G. Classification, epidemiology, and global burden of cardiomyopathies. Circ Res. 2017; 121(7): 722–730.
  3. McNally EM, Mestroni L. Dilated cardiomyopathy: genetic determinants and mechanisms. Circ Res. 2017; 121(7): 731–748.
  4. 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.
  5. 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.
  6. 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.
  7. Meissner G. The structural basis of ryanodine receptor ion channel function. J Gen Physiol. 2017; 149(12): 1065–1089.
  8. 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.
  9. 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.
  10. 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.

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