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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


Not available


Not available
Get Citation


dilated cardiomyopathy; ryanodine receptor; familial; truncating variant

About this article

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


Cardiology Journal


Ahead of print

Published online







dilated cardiomyopathy
ryanodine receptor
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

References (10)
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  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.
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  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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