Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations
Research output: Contribution to journal › Journal article › Research › peer-review
OBJECTIVE: The aim of this study was to characterise disease penetrance, course of disease and use of antiarrhythmic medication and implantable cardioverter-defibrillator (ICD) therapy in a Danish nationwide cohort of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) due to mutations in the ryanodine receptor-2 (RyR2) gene.
METHODS: The study population was identified through the national hereditary heart disease database (Progeny). The study population was divided into three groups: probands, symptomatic and asymptomatic relatives.
RESULTS: We identified 23 symptomatic probands, 18 symptomatic and 10 asymptomatic relatives with a RyR2 mutation. Twenty (87%) probands and 10 (36%) relatives had severe presenting symptoms (sudden cardiac death (SCD), aborted SCD (ASCD) or syncope).As compared with symptomatic relatives, probands had lower age at onset of symptoms (16 years (IQR, 10-33) vs 43 years (IQR, 25-54), p<0.0001) and were more prone to fatal or near-fatal events (ASCD, SCD) (16vs5, p<0.0001). Twenty-eight patients had an ICD implanted, and eight experienced appropriate ICD therapy during follow-up (65 months (IQR, 43-175)). Electrical storm was seen in two of the 28 ICD treated patients (7%). No patients receiving treatment died during follow-up (57 months (IQR, 32-139)). Multifocal atrial tachycardia was the predominant symptom in five patients.
CONCLUSIONS: In a national cohort of RyR2 mutation-positive CPVT patients, SCD, ASCD and syncope were presenting events in the majority of probands and also occurred in 36% of relatives identified through family screening. Probands were younger at disease onset and more prone to fatal or near-fatal events than relatives.
Original language | English |
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Journal | Heart |
Volume | 103 |
Issue number | 12 |
Pages (from-to) | 901-909 |
ISSN | 1355-6037 |
DOIs | |
Publication status | Published - 2017 |
- Adolescent, Adult, Child, DNA/genetics, DNA Mutational Analysis, Electrocardiography, Female, Humans, Male, Middle Aged, Mutation, Pedigree, Retrospective Studies, Ryanodine Receptor Calcium Release Channel/genetics, Tachycardia, Ventricular/genetics, Young Adult
Research areas
ID: 195163173