Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F27283933%3A_____%2F25%3AN0000025" target="_blank" >RIV/27283933:_____/25:N0000025 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/25:10500918 RIV/00023001:_____/25:00085977 RIV/00216208:11130/25:10500918

Result on the web

<a href="https://academic.oup.com/europace/article/27/9/euaf189/8241940" target="_blank" >https://academic.oup.com/europace/article/27/9/euaf189/8241940</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1093/europace/euaf189" target="_blank" >10.1093/europace/euaf189</a>

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

N/A (Rapid communication), No abstract available Background: Mutations in the RYR2 gene are associated with a broad spectrum of cardiac arrhythmias and cardiomyopathies. While exon 3 deletions are a recognized entity among RYR2‑related disorders, larger multiexon deletions are rare. Case description: We report a novel heterozygous deletion of four exons (exons 3–6) in the RYR2 gene identified in a Czech family with three affected individuals. The phenotype combined malignant ventricular and supraventricular arrhythmias with left ventricular hypertrabecularization and systolic dysfunction, without late gadolinium enhancement on cardiac magnetic resonance imaging. Clinical manifestations included syncope, atrial fibrillation, sustained ventricular tachycardia and ventricular fibrillation requiring implantable cardioverter‑defibrillator therapy. Family screening revealed variable expressivity, including structural cardiac abnormalities and arrhythmias, while incomplete penetrance was observed in the offspring. Conclusion: This report expands the spectrum of RYR2‑related ryanodinopathies and suggests that multiexon deletions beyond exon 3 may cause a distinct phenotype combining electrical instability with structural myocardial involvement.

Czech name

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Czech description

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Type

J_ost - Miscellaneous article in a specialist periodical

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Europace

ISSN

1099-5129

e-ISSN

1099-5129

Volume of the periodical

27

Issue of the periodical within the volume

9

Country of publishing house

GB - UNITED KINGDOM

Number of pages

3

Pages from-to

1-3

UT code for WoS article

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EID of the result in the Scopus database

2-s2.0-105016480259