Key result
A pathogenic truncating RYR1 variant was identified in a 32-year-old man with positional ventricular tachycardia and overlapping Brugada syndrome and borderline ACM features.
Why the study?
Brugada syndrome and arrhythmogenic cardiomyopathy may overlap clinically, but shared mechanisms and genetic associations remain unclear.
Case Report (n=1)
No
This case report describes a novel clinical observation of a pathogenic truncating RYR1 variant in a patient presenting with positional ventricular tachycardia and overlapping features of Brugada syndrome and borderline arrhythmogenic cardiomyopathy.
Answers are grounded in this paper and cite their sources.
Does not support practice change; leaves open RYR1 role in Brugada-ACM overlap with positional VT.
BACKGROUND: Brugada syndrome (BrS) and arrhythmogenic cardiomyopathy (ACM) may overlap clinically, but shared mechanisms remain unclear. RYR1 mutations have not been previously linked to these arrhythmia syndromes. CASE SUMMARY: A 32-year-old man with a family history of BrS presented with palpitations and positional ventricular tachycardia. Ajmaline testing unmasked a diagnostic type 1 BrS electrocardiographic pattern. Cardiac magnetic resonance showed subtle right ventricular dyskinesia and focal left ventricular fibrosis, meeting borderline ACM criteria. Electrophysiological study showed noninducible ventricular arrhythmias, but premature ventricular contractions were reproducibly provoked in the left-lateral position. After shared decision-making, an implantable cardioverter-defibrillator was implanted for primary prevention. Genetic testing revealed a pathogenic truncating RYR1 variant (p.Arg2920∗). DISCUSSION: This case illustrates a novel association of RYR1 mutation with overlapping BrS-ACM features. Shared connexome and calcium-handling abnormalities may underlie this phenotype. TAKE-HOME MESSAGES: RYR1 mutations may contribute to overlapping BrS-ACM phenotypes. Careful imaging, provocative testing, and genetic assessment can guide management.
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Saplaouras et al. (2026) conducted a case report in Overlapping Brugada syndrome (BrS) and borderline arrhythmogenic cardiomyopathy (ACM) with positional ventricular tachycardia (n=1). Pathogenic truncating RYR1 variant (c.8758C>T, p.Arg2920) managed with bisoprolol and implantable cardioverter-defibrillator (ICD) implantation was evaluated on Clinical arrhythmia recurrence and ICD therapies at 90-day follow-up. A pathogenic truncating RYR1 variant was identified in a 32-year-old man with positional ventricular tachycardia and overlapping Brugada syndrome and borderline ACM features.
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