Publications by authors named "Patrick Gambelli"

Article Synopsis
  • This study investigates nonmodifiable risk factors for life-threatening arrhythmic events (LAEs) in patients with Brugada syndrome (BrS), focusing on factors like sex and genetic mutations.
  • Data was collected from over 2,000 Italian patients with BrS, revealing that male sex and specific SCN5A gene mutations significantly increase the risk of experiencing LAEs.
  • The findings suggest that certain nonmodifiable risks can help stratify patients into different risk profiles, aiding in the management and prognostication of BrS.
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Background Atherosclerosis vulnerability regression has been evidenced mostly in randomized clinical trials with intensive lipid-lowering therapy. We aimed to demonstrate vulnerability regression in real life, with a comprehensive quantitative method, in patients with asymptomatic mild to moderate carotid atherosclerosis on a secondary prevention program. Methods and Results We conducted a single-center prospective observational study (MAGNETIC [Magnetic Resonance Imaging as a Gold Standard for Noninvasive Evaluation of Atherosclerotic Involvement of Carotid Arteries]): 260 patients enrolled at a cardiac rehabilitation center were followed for 3 years with serial magnetic resonance imaging.

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Article Synopsis
  • Timothy syndrome 1 (TS1) is a serious condition that causes dangerous heart rhythm problems and is linked to genetic mutations affecting calcium channel function.* -
  • Researchers created a pig model of TS1 that mimics human disease, showing extended QT intervals and higher mortality rates due to arrhythmias, along with distinct changes in how the heart activates.* -
  • The study identified a vulnerability to reentry arrhythmias in TS1 and demonstrated that certain drugs could effectively treat this condition, highlighting the role of calcium overload in heart cell function issues.*
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Importance: Patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) may experience life-threatening arrhythmic events (LTAEs) despite β-blocker treatment. Further complicating management, the role of implantable cardioverter defibrillator (ICD) in CPVT is debated.

Objective: To investigate the long-term outcomes of patients with RYR2 CPVT treated with β-blockers only and the cost to benefit ratio of ICD.

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Background: The genetic architecture of Brugada syndrome (BrS) is emerging as an increasingly complex area of investigation. The identification of genetically homogeneous populations can provide mechanistic insights and improve genotype-phenotype correlation.

Objective: To characterize and define the clinical implications of a novel BrS founder mutation.

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Variant interpretation for the diagnosis of genetic diseases is a complex process. The American College of Medical Genetics and Genomics, with the Association for Molecular Pathology, have proposed a set of evidence-based guidelines to support variant pathogenicity assessment and reporting in Mendelian diseases. Cardiovascular disorders are a field of application of these guidelines, but practical implementation is challenging due to the genetic disease heterogeneity and the complexity of information sources that need to be integrated.

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Background: Long QT syndrome (LQTS) is a common inheritable arrhythmogenic disorder, often secondary to mutations in the KCNQ1, KCNH2, and SCN5A genes. The disease is characterized by a prolonged ventricular repolarization (QTc interval) that confers susceptibility to life-threatening arrhythmic events (LAEs).

Objectives: This study sought to create an evidence-based risk stratification scheme to personalize the quantification of the arrhythmic risk in patients with LQTS.

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Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a leading cause of sudden cardiac death, but its progression over time and predictors of arrhythmias are still being defined.

Objectives: This study sought to describe the clinical course of ARVC and occurrence of life-threatening arrhythmic events (LAE) and cardiovascular mortality; identify risk factors associated with increased LAE risk; and define the response to therapy.

Methods: We determined the clinical course of 301 consecutive patients with ARVC using the Kaplan-Meier method adjusted to avoid the bias of delayed entry.

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Cardiovascular disease (CVD) and depression are two of the most common human health problems. Patients with depression have an increased risk of developing cardiovascular disease and mortality after experiencing a cardiac event. Both diseases are complex disorders that are influenced by genetic and environmental factors.

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