Publications by authors named "C R Bezzina"

To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respectively.

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Background: Congenital long QT syndrome (LQTS) is characterized by delayed ventricular repolarization, predisposing to potentially lethal ventricular arrhythmias. The variability in disease severity among patients remains largely unexplored, underscoring the limitations of current risk stratification methods.

Objective: We aimed to evaluate the potential utility of electrocardiographic markers from the exercise stress test (EST) in identifying patients with high-risk LQTS.

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Article Synopsis
  • The study focused on identifying imaging biomarkers for pre-clinical cardiomyopathy in healthy people with genetic variants linked to hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM).
  • Out of 40,169 participants, 13 cardiac magnetic resonance (CMR) measurements were found to be linked to atrial fibrillation (AF) and 15 with heart failure (HF), with specific measurements correlating differently with HCM and DCM genetic risk.
  • The findings suggest that certain CMR measurements, particularly from the right side of the heart, can indicate early changes in heart function in individuals with HCM genetic variants, while left ventricular measures relate to DCM genetic risks
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Article Synopsis
  • * A large study involving nearly 10,000 DCM cases and close to a million controls identified 70 significant genetic locations linked to the disease, revealing the importance of heart muscle cells in its development.
  • * The research also indicates that factors like higher body weight and blood pressure may contribute to DCM, and genetic risk scores can help predict the condition across different populations.
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