Abstract
Ventricular arrhythmias are one of the most common causes of death in developed countries. The use of implantable cardiac defibrillators is the most effective treatment to prevent sudden cardiac death. To date, the ejection fraction is the only approved clinical variable used to determine suitability for defibrillator placement in subjects with heart failure. The purpose of this study was to assess whether genetic polymorphisms found in the ryanodine receptor type 2 (Q2958R) and histidine-rich calcium-binding protein (S96A) might serve as markers for arrhythmias. Genotyping was performed in 235 patients treated with defibrillator for primary and secondary prevention of arrhythmias. No significant association was found between the S96A polymorphism and arrhythmia onset, whereas the QQ2958 genotype in the ryanodine receptor gene was correlated with an increased risk of life-threatening arrhythmias. Concurrent stressor conditions, such as hypertension, seem to increase this effect. Our findings might help to better identify patients who could benefit from defibrillator implantation.
Highlights
Sudden cardiac death (SCD) is one of the most frequent causes of death in industrialized countries
As reported in previous studies [10,11,12], ion channels polymorphisms have the potential to modify the clinical phenotype. These findings suggested the idea that polymorphisms in ryanodine receptor type 2 (RyR2) and histidine-rich Ca-binding protein (HRC) genes might have the same potential, representing an important factor in determining the risk of arrhythmia in heart failure (HF) patients who could benefit from an implantable cardioverter-defibrillator (ICD) implantation
With respect to HF aetiology, the difference in the distribution of cardiac pathologies was due to the different ACC/AHA/HRS guidelines indications
Summary
Sudden cardiac death (SCD) is one of the most frequent causes of death in industrialized countries. Ran et al [5] found that the G1886S variant (rs3766871) of the RyR2 gene was associated with an increased risk of ventricular arrhythmias and sudden cardiac death. As reported in previous studies [10,11,12], ion channels polymorphisms have the potential to modify the clinical phenotype These findings suggested the idea that polymorphisms in RyR2 and HRC genes might have the same potential, representing an important factor in determining the risk of arrhythmia in HF patients who could benefit from an ICD implantation. We investigated whether these two polymorphisms (RyR2-Q2958R and HRC-S96A) are associated with the occurrence of spontaneous ventricular arrhythmias in patients receiving an ICD for primary and secondary prevention of SCD
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