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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_ost - Ostatní články v recenzovaných periodicích

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2025

Kód důvěrnosti údajů

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

Název periodika

Europace

ISSN

1099-5129

e-ISSN

1099-5129

Svazek periodika

27

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

3

Strana od-do

1-3

Kód UT WoS článku

—

EID výsledku v databázi Scopus

2-s2.0-105016480259