Sudden cardiac death in the young: the bogeyman.

Sudden cardiac death in the young is a relatively uncommon but marked event usually related to congenital diseases or anomalies. Despite the prevalence of each condition being variable, most common causes include primary myocardial diseases and arrhythmic disorder, frequently with inheritance pattern. Sudden cardiac death is usually preceded by symptoms, thus making personal and family history fundamental for its prevention. Nevertheless, in more than 50% of cases, sudden cardiac death is the first manifestation of the disease. In this review, we describe the different causes of sudden cardiac death, their incidence, and currently used preventive strategies.

Indication to cardioverter-defibrillator therapy and outcome in real world primary prevention. Data from the IRIDE [Italian registry of prophylactic implantation of defibrillators] study.

AIMS: Several trials demonstrated the life saving role of implantable cardioverter-defibrillators (ICD) in primary prevention of sudden cardiac death (SCD). The aim was to evaluate the clinical characteristics and 4-year outcome of consecutive patients treated in clinical practice by prophylactic ICD implantation on the basis of class I recommendations and up-to-date ICD programming. METHODS AND RESULTS: IRIDE multi-center, prospective and observational study enrolled 604 consecutive patients (mean age: 66 ± 10 years) treated by ICD between 01/01/2006 and 30/06/2010. Main characteristics were similarly distributed among the inclusion criteria of MADIT II (24%), SCD-HeFT (24%), COMPANION (26%) and MADIT-CRT (18%) trials, while a small number of patients met the MUSTT and MADIT (7%) inclusion criteria. Single-chamber ICDs were implanted in 168 (28%) patients, dual-chamber in 167 (28%) and biventricular in 269 (43%) patients. ATP programming was activated in 546 (90%) patients. Overall survival and rate of appropriate ICD intervention by ATP and/or shock at 12-24-36-48 months of follow-up were 94%, 89%, 80%, 75% and 16%, 28%, 37% and 50%, respectively. No difference in mortality rate between the groups who received or did not receive appropriate ICD interventions was demonstrated (p=ns). CONCLUSIONS: The IRIDE study confirms the effectiveness in real world practice of ICD implantation in patients at risk of SCD. The life saving role of ICD therapy increases as the duration of follow-up is prolonged and the survival benefit is similar in patients who received or did not receive appropriate device treatment, thus suggesting a beneficial effect of up-to-date device programming.

Cardiopulmonary resuscitation training in high-school adolescents by distributing personal manikins. The Como-Cuore experience in the area of Como, Italy.

BACKGROUND: Most witnessed out-of-hospital cardiac arrests (OHCA) do not receive bystander cardiopulmonary resuscitation (CPR). The incidence of laypersonsO' CPR could be increased by widespread training. We evaluated the effect of distribution of CPR educational material to high-school students in the area of Como, Italy. METHODS AND RESULTS: From January 2008 to October 2009, we distributed 3200 resuscitation manikins to pupils (62% boys, mean age 16.5 ± 0.8 years) at 20 high schools in the area of Como. All students received a kit including a personal manikin and a 27 min educational digital video disc. Furthermore, they received 40 min school training in the fundamental maneuvers of CPR utilizing the manikin. Afterwards, they were encouraged to train friends and relatives at home (second tier), utilizing the kit. Eight months later, a questionnaire was randomly submitted to a sample of 600 students (19% of the distributed manikins). The 600 kits had been used to train 1058 from the second tier (mean, 1.77 persons per pupil; 95% confidence interval 1.62-1.93). Boys had a significantly lower multiplier effect than girls: 1.45 ± 1.01 vs. 2.26 ± 1.89 (P < 0.0001). Ninety-five percent of pupils considered themselves sufficiently trained in CPR and 62.3% declared their availability to effectively practice CPR if necessary. One pupil performed an effective CPR during her mother's OHCA. CONCLUSIONS: CPR training can be disseminated using personal manikins distributed to pupils. Most students declared themselves trained and willing to start bystander CPR if necessary. One successful CPR was effectively performed.

Tilt testing potentiated with sublingual nitroglycerin in children with unexplained syncope.

AIMS: The aim of this prospective study was to assess the diagnostic value of a sublingual nitroglycerin (NTG) potentiated head-up tilt (HUT) testing protocol in children with unexplained syncope. METHODS AND RESULTS: One hundred and sixty-four consecutive paediatric patients with syncope of unknown origin and no evidence of organic heart disease (115 female, mean age 13 +/- 3 years) and 29 control children underwent a sublingual NTG-potentiated tilt testing protocol. Paediatric patients and controls were tilted at 60 degrees for 20 min and, if no symptom occurred, for other 15 min after sublingual 400 mug spray NTG administration. During the drug-free phase of the test, 13 patients (8%) and no controls had a positive response. After drug administration, a positive response occurred in another 88 patients (55%) and in four controls (14%), whereas an exaggerated response was observed in nine patients (5%) and in four controls (14%). Thus, the positive rate and specificity of sublingual NTG HUT test in children were 63 and 86%, respectively. No relevant adverse events were observed during the test. CONCLUSION: Tilt testing potentiated with sublingual NTG has proved to be effective and safe in unmasking the neurally mediated origin of unexplained syncope in children. The NTG challenge greatly increased the positive rate of passive tilt, with a small decrease in specificity.

[A case of left ventricular thrombosis in a patient with beta-thalassemia major]. / Un caso di trombosi ventricolare sinistra in una paziente affetta da beta-talassemia maior.

In patients with beta-thalassemia major cardiac events due to iron overload are the main cause of death. Moreover, a chronic hypercoagulable state has been described in these patients, which sometimes complicates with thromboembolic events, mainly cerebral ischemic accidents and deep venous thrombosis. We describe a case of cardiac hemochromatosis complicated with fatal massive multiorgan embolism due to a large left ventricular thrombus in a patient with beta-thalassemia major.

Echocardiography in atrial fibrillation.

Atrial fibrillation is the most commonly encountered sustained arrhythmia. Echocardiography has augmented the knowledge about etiology and complications of atrial fibrillation. Transthoracic echocardiography allows rapid, safe and comprehensive assessment of cardiac structure and function, and is recommended for all subjects with atrial fibrillation. The use of transesophageal echocardiography has contributed to a better understanding of the thromboembolic risk in patients with atrial fibrillation, especially in the setting of electrical cardioversion. Several investigators have demonstrated the feasibility and safety profile of early cardioversion with short-term anticoagulation in patients with atrial fibrillation and a transesophageal echocardiography negative for atrial thrombi. More recently, transesophageal and intracardiac echocardiography have been employed in patients with atrial fibrillation to monitor percutaneous procedures such as pulmonary veins radiofrequency ablation or left atrial appendage obliteration. In this review the available echocardiographic imaging modalities and their specific role in the evaluation and management in atrial fibrillation are described.

Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.

A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed.

Efficacy of tilt training in the treatment of neurally mediated syncope. A randomized study.

Recurrent neurally mediated syncope represents a common clinical event and a therapeutic challenge. Recently tilt training has been proposed for the treatment of recurrent neurally mediated syncope. To evaluate the efficacy of tilt training in preventing tilt-induced syncope and its feasibility, this controlled, randomized study was undertaken. Sixty-eight consenting patients (25 males and 43 females, mean age 40 +/- 19) with recurrent neurally mediated syncope and 2 consecutive positive nitroglycerin-potentiated head-up tilt tests were randomized to tilt training (35 patients) or no treatment (controls, 33 patients). The tilt training programme consisted of daily 30-min sessions of upright standing against a vertical wall 6 days a week for at least 3 weeks, until a reevaluation tilt test (3 patients of both groups dropped out). On this third head-up tilt test, 19 (59%) of 32 tilt trained patients and 18 (60%) of 30 controls still had a positive test. Treated patients performed a mean number of 15 +/- 7 sessions (median 16) and only 11 patients (34%) did all the programmed sessions. Only 1 patient (3%) discontinued treatment because of intolerance, while all other patients did not perform tilt training adequately, because of poor compliance. Thus, in our study tilt training was not effective in reducing tilt testing positivity rate in patients with neurally mediated syncope. Because of poor compliance, tilt training appears to be a feasible treatment only for highly motivated patients, but not for the majority of patients with recurrent neurally mediated syncope.

Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy.

Myocardial involvement is a common finding in patients with Duchenne-type muscular dystrophy (DMD). Nevertheless, the prognostic values of standard electrocardiogram (ECG), ventricular arrhythmias, ventricular late potentials (LPs), and left ventricular (LV) systolic dysfunction have not been extensively investigated. Eighty-four patients with DMD (aged 18.6 +/- 4.8 years) underwent standard and signal-averaged electrocardiography, 24-hour Holter monitoring, and echocardiography. The prevalence of electrocardiographic abnormalities, frequent ventricular premature complexes, LPs, and LV systolic dysfunction was 71%, 32%, 28%, and 35%, respectively. Median follow-up was 76 months (range 5 to 106). The mortality rate in the follow-up period was 27%. The typical DMD electrocardiographic alterations, ventricular arrhythmic pattern, and LPs were not predictors of mortality. In contrast, the presence of LV systolic dysfunction detected on echocardiography was a powerful predictor of mortality in the follow-up period (p = 0.013, hazard ratio 3.14, 95% confidence interval 1.27 to 7.79). Thus, echocardiographic assessment of LV systolic dysfunction provides prognostic information in patients with DMD. Electrocardiographic alterations, ventricular arrhythmias, and LPs have no prognostic value in predicting mortality in these patients.