Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F46747885%3A24530%2F25%3A00013660" target="_blank" >RIV/46747885:24530/25:00013660 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1093/europace/euaf189" target="_blank" >https://doi.org/10.1093/europace/euaf189</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype
Original language description
Ryanodine receptor 2 gene codes for a Ca2+ channel involved in excitation–contraction coupling in the cardiac muscle. Missense mutations in RYR2 cause catecholaminergic polymorphic ventricular tachycardia (CPVT), while an exon 3 deletion has been reported in patients with variable clinical manifestations including supraventricular arrhythmias, conduction disorders, ventricular arrhythmias and left ventricular (LV) hypertrabecularization. This syndrome, also called exon 3 deletion syndrome (E3DS), is now considered a distinct diagnostic entity among RYR2-ryanodinopathies.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů