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.

Considering Diastolic Dyssynchrony as a Predictor of Favorable Response in LV-Only Fusion Pacing Cardiac Resynchronization Therapy.

Background: CRT improves systolic and diastolic function, increasing cardiac output. Aim of the study: to assess the outcome of LV diastolic dyssynchrony in a population of fusion pacing CRT. Methods: Diastolic dyssynchrony was measured by offline speckle-tracking-derived TDI timing assessment of the simultaneity of E″ and A″ basal septal and lateral walls. New parameters introduced: E″ and, respectively, A″ time (E″T/A″T) as the time difference between E″ (respectively, A″) peak septal and lateral wall. Patients were divided into super-responders (SR), responders (R), and non-responders (NR). Results: Baseline characteristics: 62 pts (62 ± 11 y.o.) with idiopathic DCM, EF 27 ± 5.2%; 29% type III diastolic dysfunction (DD), 63% type II, 8% type I. Average follow-up 45 ± 19 months: LVEF 37 ± 7.9%, 34%SR, 61%R, 5%NR. The E″T decreased from 90 ± 20 ms to 25 ± 10 ms in SR with significant LV reverse remodeling (LV end-diastolic volume 193.7 ± 81 vs. 243.2 ± 82 mL at baseline, p < 0.0028) and lower LV filling pressures (E/E' 13.2 ± 4.6 vs. 11.4 ± 4.5, p = 0.0295). DD profile improved in 65% of R with a reduction in E/E' ratio (21 ± 9 vs. 14 ± 4 ms, p < 0.0001). Significant cut-off value calculated by ROC curve for LV diastolic dyssynchrony is E″T > 80 ms and A″T > 30 msec. Conclusions: The study identifies the cut-off values of diastolic dyssynchrony parameters as predictors of favorable outcomes in responders and super-responder patients with fusion CRT pacing. These findings may have important implications in patient selection and follow-up.

Factors Associated with Stroke in Atrial Fibrillation. A Retrospective Study.

AIM: The aim of our study was to retrospectively evaluate known factors such as CHA2DS2-VASc, but, also, new factors (such as left atrial remodeling), associated with the development of stroke in patients with atrial fibrillation (AFi). MATERIAL AND METHODS: We performed a retrospective study in which 251 patients with AFi were included. 47 patients had an ischemic stroke before the diagnosis of AFi, at the time of diagnosis or after AFi was diagnosed. The CHA2DS2-VASc score was analyzed for all patients together with other left atrial remodeling parameters. RESULTS: We observed that among the patients with ischemic stroke approximately 61.70% were over 72.5 years old compared to those without stroke who presented this age in a proportion of only 44.61% (OR=2.001, P=0.0367). The CHA2DS2-VASc score had the greatest statistical impact for stroke, as expected. Patients with a CHA2DS2-VASc score >4.5 presented stroke in a proportion of 87.23% compared to CHA2DS2-VASc <4.5 who had stroke only in a proportion of 12.77% (OR=11.51, P=<0.0001). Regarding left atrial remodeling parameters, low LA ejection fraction was associated with a high percentage of stroke among patients (61.70%) compared to those with LA EF>34.5% who had stroke only in a percentage of 38.30% (OR= 2.124, P=0.0238). CONCLUSIONS: Although the CHA2DS2-VASc score remains a good factor for predicting the association of AFi with ischemic stroke, echocardiographic parameters for the evaluation of the left atrium can be used as new risk factors for predicting the occurrence of ischemic stroke in patients with AFi.

A Novel and Simple Exercise Test Parameter to Assess Responsiveness to Cardiac Resynchronization Therapy.

This study assessed the value of heart rate recovery index (HRRI), a new parameter of an exercise test, as the predictor of response to cardiac resynchronization therapy (CRT). Methods: Consecutive patients receiving a CRT device were followed up after implantation and every 6 months. An effort test (ET) was quantified by minimum heart rate/maximum heart rate, as well as acceleration and deceleration times. HRRI was calculated as the ratio between acceleration and deceleration time (AT/DT) and compared to outcome. We used logistic regression to assess the predictive value of HRRI for responders and non-responders to CRT. The area under the curve (AUC) was computed to distinguish between positive and negative outcomes. Results: A total of 109 patients (74 men, mean age 63.3 ± 9.8 years) were analyzed; permanent long-term fusion CRT pacing was possible in 65 patients. Patients were assigned to two groups: responders and non-responders (98/11 patients). During a mean follow-up of 36 months, 545 ETs were performed. HRRI was significantly higher in responders versus non-responders (3.16 ± 2 vs. 1.4 ± 0.5, p < 0.001). The optimal cutoff value for HRRI as a predictor of CRT response was 1.51 (area under the receiver operating characteristic (ROC) curve = 0.844). Responders had significant left-ventricular (LV) reverse remodeling (LV end-diastolic volume = 240 ± 90 mL vs. 217 ± 89 mL, p < 0.001) and higher LV ejection fraction (26 ± 5.8% vs. 35 ± 8.7%, p < 0.001). Conclusions: HRRI computation during routine ET is useful for the evaluation of responsiveness to CRT.