Unexpected Genetic Twists in Patients with Cardiac Devices.

Objective: To assess the frequency and types of genetic mutations in patients with arrhythmias who underwent cardiac device implantation. Methods: Retrospective observational study, including 38 patients with different arrhythmias and cardiac arrest as a first cardiac event. Treatment modalities encompass pacemakers, transvenous defibrillators, loop recorders, subcutaneous defibrillators, and cardiac resynchronization therapy. All patients underwent genetic testing, using commercially available panels (106-174 genes). Outcome measures include mortality, arrhythmia recurrence, and device-related complications. Results: Clinical parameters revealed a family history of sudden cardiac death in 19 patients (50%), who were predominantly male (58%) and had a mean age of 44.5 years and a mean left ventricle ejection fraction of 40.3%. Genetic testing identified mutations in various genes, predominantly TMEM43 (11%). In two patients (3%) with arrhythmogenic cardiomyopathy, complete subcutaneous defibrillator extraction with de novo transvenous implantable cardioverter-defibrillator implantation was needed. The absence of multiple associations among severe gene mutations was crucial for cardiac resynchronization therapy response. Mortality in this group was around 3% in titin dilated cardiomyopathy patients. Conclusions: Integration of genetic testing into the decision-making process for patients with electronic devices represents a paradigm shift in personalized medicine. By identifying genetic markers associated with arrhythmia susceptibility, heart failure etiology, and cardiac resynchronization therapy response, clinicians can tailor device choices to optimize patient outcomes.

A Comparative Analysis of Apical Rocking and Septal Flash: Two Views of the Same Systole?

Heart failure (HF) is a complex medical condition characterized by both electrical and mechanical dyssynchrony. Both dyssynchrony mechanisms are intricately linked together, but the current guidelines for cardiac resynchronization therapy (CRT) rely only on the electrical dyssynchrony criteria, such as the QRS complex duration. This possible inconsistency may result in undertreating eligible individuals who could benefit from CRT due to their mechanical dyssynchrony, even if they fail to fulfill the electrical criteria. The main objective of this literature review is to provide a comprehensive analysis of the practical value of echocardiography for the assessment of left ventricular (LV) dyssynchrony using parameters such as septal flash and apical rocking, which have proven their relevance in patient selection for CRT. The secondary objectives aim to offer an overview of the relationship between septal flash and apical rocking, to emphasize the primary drawbacks and benefits of using echocardiography for evaluation of septal flash and apical rocking, and to offer insights into potential clinical applications and future research directions in this area. Conclusion: there is an opportunity to render resynchronization therapy more effective for every individual; septal flash and apical rocking could be a very useful and straightforward echocardiography resource.

Heart Rate Recovery: Up to Date in Heart Failure-A Literature Review.

The rising prevalence of cardiovascular disease underscores the growing significance of heart failure (HF). Pathophysiological insights into HF highlight the dysregulation of the autonomic nervous system (ANS), characterized by sympathetic overactivity and diminished vagal tone, impacting cardiovascular function. Heart rate recovery (HRR), a metric measuring the heart's ability to return to its baseline rate post-exertion, plays a crucial role in assessing cardiovascular health. Widely applied across various cardiovascular conditions including HF, coronary artery disease (CAD), and arterial hypertension (HTN), HRR quantifies the difference between peak and recovery heart rates. Given its association with elevated sympathetic tone and exercise, HRR provides valuable insights into the perspective of HF, beyond effort tolerance, reaching toward prognostic and mortality indicators. Incorporating HRR into cardiovascular evaluations enhances our understanding of autonomic regulation in HF, offering potential implications for prognostication and patient management. This review addresses the significance of HRR in HF assessment, analyzing recently conducted studies, and providing a foundation for further research and clinical application.