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Background: Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but the clinical implications of these signs are not well understood., Objective: To learn more about the natural history of LMNA-related disease., Design: Observational study., Setting: 13 clinical centers in Italy from 2000 through 2018., Patients: 164 carriers of an LMNA mutation., Measurements: Detailed cardiologic and neurologic evaluation at study enrollment and for a median of 10 years of follow-up., Results: The median age at enrollment was 38 years, and 51% of participants were female. Neuromuscular manifestations preceded cardiac signs by a median of 11 years, but by the end of follow-up, 90% of the patients had electrical heart disease followed by structural heart disease. Overall, 10 patients (6%) died, 14 (9%) received a heart transplant, and 32 (20%) had malignant ventricular arrhythmias. Fifteen patients had gait loss, and 6 had respiratory failure. Atrial fibrillation and second- and third-degree atrioventricular block were observed, respectively, in 56% and 51% of patients with combined cardiac and neuromuscular manifestations and 37% and 33% of those with heart disease only., Limitations: Some of the data were collected retrospectively. Neuromuscular manifestations were more frequent in this analysis than in previous studies., Conclusion: Many patients with an LMNA mutation have neurologic symptoms by their 30s and develop progressive cardiac manifestations during the next decade. A substantial proportion of these patients will have life-threatening neurologic or cardiologic conditions., Primary Funding Source: None.

Aims: The long-term impact of implantable device-related complications on the patient outcome has not been thoroughly evaluated. The aims of this retrospective, bi-centre study were to analyse the rate and nature of device-related complications requiring surgical revision in a large series of patients undergoing device implantation, elective generator replacement and pacing system upgrade and to systematically assess the impact of such complications on patient outcome and healthcare utilization., Methods and Results: Data from 2671 consecutive procedures (1511 device implantations, 1034 elective generator replacements, and 126 pacing system upgrades) performed between January 2006 and March 2011 were retrospectively analysed. The outcome measures recorded were complication-related mortality, number of re-operations, need for complex surgical procedures, number of re-hospitalizations, and additional hospital treatment days. Over a median follow-up of 27 months, the overall rate of complications was 2.8% per procedure-year [9.5% in cardiac resynchronisation therapy (CRT) device implantation, 6.1% in pacing system upgrade, 3.5% in implantable cardioverter defibrillator implantation, 1.7% in pacemaker implantation, and 1.7% in generator replacement). The procedure with the highest risk of complications was CRT device implantation (odds ratio: 6.6; P < 0.001); these complications primarily involved coronary sinus lead dislodgement and device infection. Patients with complications had a significantly higher number of device-related hospitalizations (2.3 ± 0.6 vs. 1.0 ± 0.1; P < 0.001) and hospital treatment days (15.7 ± 25.1 vs. 3.6 ± 1.1; P < 0.001) than those without complications. Device infection was the complication with the greatest negative impact on patient outcome., Conclusion: Cardiac resynchronisation therapy implantation was the procedure with the highest risk of complications requiring surgical revision. Complications were associated with substantial clinical consequences and a significant increase in the number and length of hospitalizations.

Background and Aims: Anemia seems to be rather common in cardiac rehabilitation patients but it is not known whether it could influence cardiovascular performance indexes and prognosis immediately after an acute cardiac event. The purposes of this study were to define its prevalence and to investigate the safety and efficacy of an intensive exercise-based cardiac rehabilitation in patients with and without anemia., Methods: 436 participants (77% males; mean age 64 ± 13 years) were submitted to a two-week cardiac rehabilitation program consisting of low to medium intensity, individualized training with respiratory, aerobic and calisthenic exercises (three sessions daily, six times per week). A six-minute walking test was performed at enrolment and repeated at discharge together with a cardiopulmonary test., Results: Anemia, as defined according to World Health Organization criteria, was detected in 328 patients (75.2% of the entire population). The distance walked increased from 381 ± 117 m at baseline to 457 ± 110 m (p < 0.001) after a mean period of 12.4 ± 4 days. A direct correlation was found between hemoglobin concentrations and both the absolute distance walked (r = 0.48; p < 0.001) and peak VO(2) (r = 0.39; p < 0.001). Anemic patients walked a significantly shorter distance at baseline and at discharge (p < 0.001); however, both groups showed the same increment in the distance walked: 76.0 ± 61 m vs 76.0 ± 60 m (p = 0.99)., Conclusions: Our data indicate: 1) a high prevalence of anemia in the study population and 2) that, in spite of a clear reduction in exercise capacity, a moderate anemia does not preclude increments in cardiac performance during a short period of intensive, exercise-based cardiac rehabilitation.

Aim: The purpose of this study was to investigate the feasibility of contrast-enhanced ultrasound (CEUS) in the evaluation of renal artery stenosis as compared with traditional techniques: echo color Doppler (ECD) investigation and selective angiography .CEUS is a technique based on the injection of an intravascular biocompatible tracer, namely an intravenous contrast galactose microparticle suspension containing microbubbles (Levovist), that has a similar rheology to that of red blood cells, allowing quantification of renal tissue perfusion., Methods: A population of 120 hypertensive patients (82 men, mean age 55) with a systolic abdominal murmur and/or a diagnosis of poly-districtual atherosclerosis was studied by ECD and CEUS (Levovist). Selective angiography was performed in patients with renal artery stenosis demonstrated by one of the two ultrasonographic techniques., Results: Forty of the 120 patients in the study population showed renal artery stenosis at one of the two ultrasound techniques: ECD identified renal artery stenosis in 33 cases and CEUS in 38. Instead, selective angiography had detected renal artery stenosis in 38 patients, the same with renal artery stenosis diagnosed by CEUS. Thus, CEUS sensitivity, specificity and accuracy were similar to those of angiography while six false negatives and two false positives were obtained with ECD., Conclusion: Our results suggest that this renal CEUS is a promising, new, non-invasive method for screening patients with suspected renal artery stenosis. This technique appears to be superior to traditional ECD flow imaging for diagnosing renal artery stenosis and so may be an important aid in cardiovascular diagnostics.

Background: Heart failure(HF) and atrial fibrillation(AF) frequently coexist in the same patient and are associated with increased mortality and frequent hospitalizations. As the concomitance of AF and HF is often associated with a poor prognosis, the prompt treatment of AF in HF patients may significantly improve outcome., Methods/design: Recent implantable cardiac resynchronization (CRT) devices allow electrical therapies to treat AF automatically. TRADE-HF (trial registration: NCT00345592; http://www.clinicaltrials.gov) is a prospective, randomized, double arm study aimed at demonstrating the efficacy of an automatic, device-based therapy for treatment of atrial tachycardia and fibrillation(AT/AF) in patients indicated for CRT. The study compares automatic electrical therapy to a traditional more usual treatment of AT/AF: the goal is to demonstrate a reduction in a combined endpoint of unplanned hospitalizations for cardiac reasons, death from cardiovascular causes or permanent AF when using automatic atrial therapy as compared to the traditional approach involving hospitalization for symptoms and in-hospital treatment of AT/AF., Discussion: CRT pacemaker with the additional ability to convert AF as well as ventricular arrhythmias may play a simultaneous role in rhythm control and HF treatment. The value of the systematic implantation of CRT ICDs with the capacity to deliver atrial therapy in HF patients at risk of AF has not yet been explored. The TRADE-HF study will assess in CRT patients whether a strategy based on automatic management of atrial arrhythmias might be a valuable option to reduce the number of hospital admission and to reduce the progression the arrhythmia to a permanent form., Trial Registration: NCT00345592.

Aims: To evaluate the prevalence, timing, and haemodynamic characteristics of prodromal symptoms in patients experiencing vasovagal syncope (VVS) during a head-up tilt test (HUT) potentiated with nitroglycerin, and their relationships with those reported before spontaneous episodes., Methods and Results: Symptoms preceding HUT-induced syncope were recorded, together with heart rate (HR) and arterial blood pressure (BP) values, in 149 otherwise healthy and drug-free subjects with recurrent unexplained syncope. Head-up tilt test significantly increase the number of patients capable of recognizing the premonitory symptoms of VVS than before spontaneous episodes (96 vs. 79%; P<0.001). The nine most frequent symptoms were stratified into three groups on the basis of their characteristics: headache, hot flashes, and palpitations occurred more than 3 min before syncope, with a very slight reduction in BP; nausea, asthenia, diaphoresis, vertigo, and epigastric discomfort preceded syncope by 1-3 min and were associated with a slight reduction in BP; and blurred vision appeared the last minute before syncope and was characterized by the lowest BP and HR values., Conclusion: In comparison with spontaneous syncopal episodes, HUT allows the more frequent recognition of prodromes also providing useful information in terms of timing and haemodynamic characteristics of symptoms that may allow more tailored patient counselling.

Introduction: Asymptomatic atrial fibrillation (AF) can expose patients to the risk of stroke. The primary objective of this study was to assess the incidence of thromboembolic events in relationship with CHADS(2) (congestive heart failure, hypertension, age >or=75 years, diabetes mellitus, and prior stroke, or transient ischemic attack) score and AF presence/duration. The secondary objective was to compare intermittent versus continuous monitoring strategies., Methods and Results: Data from patients with an implanted pacemaker and a history of AF were analyzed. Thromboembolic risk was quantified through CHADS(2) score. Three AF groups were considered: patients with <5-minutes AF on 1 day (AF-free); patients with >5-minutes AF on 1 day but <24 hours (AF-5 minutes); patients with AF episodes >24 hours (AF-24 hours). Monitoring strategies involving 24-hour Holter, 1-week Holter, and 30-day Holter were simulated. Data from 568 patients continuously monitored for 1 year were analyzed: 171 (30%) had CHADS(2) score = 0; 269 (47%) had CHADS(2) score = 1; 111 (20%) had CHADS(2) score = 2; and 17 (3%) had CHADS(2) score >or= 3. During follow-up, 14 patients (2.5%) had an ischemic thromboembolic event. AF-24 hours patients numbered 223 (39.2%); AF-5 minutes, 179 (31.5%); and AF-free, 29.2%. By combining AF presence/duration with CHADS(2) score, two subpopulations with markedly different risks of events (0.8% vs 5%, P = 0.035) were identified, the former corresponding to AF-free with CHADS(2)5 minutes was 44.4%, 50.4%, and 65.1% for 24-hour Holter, 1-week Holter, and 1-month Holter monitoring, respectively., Conclusion: In patients with recurrent AF episodes, risk stratification for thromboembolic events can be improved by combining CHADS(2) score with AF presence/duration.

Background: Optimizing dual-chamber pacing to prevent recurrences of atrial tachyarrhythmias (AT) in sinus node dysfunction is still debated. Despite the large number of studies, efficacy of sophisticated preventive algorithms has never been proven. It is not clear whether this is due to imperfect study designs or to a substantial inefficacy of pacing therapies., Aim: To intraindividually compare AT burden between an atrial overdrive and two heart rate modulation approaches: a conventional accelerometric-sensor-based DDDR mode and a contractility-driven rate responsive closed loop (CLS) algorithm., Methods and Results: Four hundred fifty-one patients with Brady-Tachy syndrome (BTS), severe bradycardia, and a documented episode of atrial fibrillation were enrolled. One month after implant, each pacing therapy was activated for 3 months in random order. A simple log transformation was used to handle large and skew AT burden distributions. Estimates were adjusted for false-positive AT episodes and reported as geometric means (95% confidence interval). A significantly higher AT burden was observed during overdrive, 0.14% (0.09%, 0.23%) (adjusted, 0.12%[0.07%, 0.20%]). Both DDDR and CLS performed better: respectively, 0.11% (0.07%, 0.17%) (adjusted, 0.08%[0.05%, 0.14%]), 0.06% (0.03%, 0.09%) (adjusted, 0.04%[0.03%, 0.07%]). All the comparisons were statistically significant. During overdrive significantly more patients had AT episodes of duration between 1 minute and 1 hour. No significant differences were observed for longer episodes., Conclusions: Atrial overdrive showed the worst performance in terms of AT burden reduction and should not be preferred to heart rate modulation approaches that still have to be considered as a first-choice pacing mode in BTS.

Aims: Despite an effective defibrillation testing (DT) is considered mandatory to be consistent with the rules of good clinical practice, some physicians are concerned about the risk of complications related to the induction test, and in real world clinical practice, several implant procedures are performed without any induction test. We conducted a systematic nation-wide retrospective survey in order to determine the DT rate and its complications., Methods and Results: An ad hoc questionnaire was sent to all 343 Italian implanting centres and the data from the 229 (67%) centres that answered were analysed. During the year 2005, a total of 7857 patients underwent a first implantation of cardioverter defibrillator (ICD), 38% of which with cardiac resynchronization therapy (CRT). Of these, 2356 (30%) were implanted without any induction test. In 35 (15%) centres, the induction test was performed in < 25% of the patients, whereas in 136 (59%) centres, it was performed in > 75% of the patients. At multivariable analysis, performed in a subset of 1206 patients from 107 centres, CRT device (OR = 1.82) and primary prevention (OR = 1.47) were independent predictors of the decision to not perform DT. However, altogether, the clinical variables accounted only for 35% of the total variance, whereas the remaining 65% was probably unrelated to clinical factors. There was a total of 22 (0.4%) life-threatening complications as a consequence of the induction test: 4 deaths (0.07%), 8 cardiopulmonary arrests requiring resuscitation manoeuvres (0.15%), 6 cardiogenic shocks (0.11%), 3 strokes (0.05%), and 1 pulmonary embolism (0.02%)., Conclusion: In real world practice, DT is not performed in a substantial number of patients, most of these in the absence of legitimate reasons. The clinical impact of DT vs. no DT remains unclear until the not negligible complication rate is compared against the long-term potential benefit.