Family History Of Sudden Death Research Articles

Analysis of risk factors of ventricular arrhythmia in patients with Brugada syndrome

Objective: To investigate the risk factors of ventricular arrhythmias in patients with Brugada syndrome. Methods: Clinical data of 60 Brugada syndrome patients admitted in the department of cardiology of the First Affiliated Hospital of Nanjing Medical University from March 2003 to December 2016 were collected and retrospectively analyzed. The age at diagnosis was (43.2±13.1) years (0.6-83.0 years), 98.3% were males (n=59), and the patients were followed up to (92±41) months (12-169 months). The 12-lead surface electrocardiogram (ECG) recorded at the time of diagnosis and showing the highest type 1 ST elevation, either spontaneously or after provocative drug test, was used for the analysis. Patients were divided into ventricular arrhythmia (VA, n=12) group and non-ventricular arrhythmia (non-VA, n=48) group depending on the presence or absence of clinical VA event. The demographic data and ECG data of the 2 groups were compared, and the independent risk factors of VA events were analyzed by stepwise logistic regression. Results: Incidence of family history of sudden death (7/12 vs. 22.9% (11/48)) and percentage of type 1 ST elevation in the peripheral ECG leads (6/12 vs. 16.67% (8/48)) were significantly higher in VA group than in non-VA group (both P<0.05). Max Tpeak-Tend (Max-Tpe) interval ((144±53)ms vs. (110±16)ms) and dispersion of Tpe ((74±50)ms vs. (43±17)ms) were significantly higher in VA group than in non-VA group (both P<0.05). The area under receiver operating characteristic (ROC) curves for the Max-Tpe interval was 0.693 and Max-Tpe interval ≥140 ms was determined as an optimized cutoff point with increased risk of VA event, which had a sensitivity of 50.0%, a specificity of 98.0%, a positive predictive value of 85.7%, and a negative predictive value of 88.7% for predicting VA event. The ROC curves for the dispersion of Tpe was 0.775 and dispersion of Tpe ≥45 ms was determined as an optimized cutoff point for predicting VA event, which had a sensitivity of 91.7%, a specificity of 64.6%, a positive predictive value of 39.3%, and a negative predictive value of 96.9% for predicting VA event. In multivariate analysis, Max-Tpe interval ≥140 ms (OR=27.53, 95%CI 1.07-706.77, P=0.045) and family history of sudden death (OR=24.63, 95%CI 2.05-295.38, P=0.011) were found to be the independent risk factors of arrhythmic events. Conclusions: Max-Tpe interval ≥140 ms and family history of sudden death are risk factors of VA event in included patients with Brugada syndrome.

Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome.

BackgroundBrugada syndrome (BS) is known to be 9 times more prevalent in males than females. However, little is known about the development of sick sinus syndrome in female members with familial BS.Methods and ResultsFamilial BS patients and family members, both from our institutions and collaborating sites that specialize in clinical care of BS, participated in this study. We collected information on their clinical and genetic background, along with the inheritance patterns of BS. Detailed information on each case with familial BS is described. A total of 7 families, including 25 BS patients (12 females and 13 males), were included. Seven were probands and 18 were family members. Ten out of the 12 female patients and none of the 13 male patients developed sick sinus syndrome. Sudden death or spontaneous ventricular fibrillation occurred in 7 out of 13 male patients and 2 out of 12 female patients.ConclusionsFamilial BS existed in which female patients developed sick sinus syndrome but male patients did not. Some of those female patients with sick sinus syndrome had unrecognized BS. Information should be collected not only regarding a family history of sudden death or BS, but also whether a pacemaker was implanted in female members.

A novel familial truncating mutation in the filamin C gene associated with cardiac arrhythmias

The authors report for the first time a novel mutation in the FLNC gene associated with cardiac arrhythmias in two half-siblings. The FLNC gene on chromosome 7q32 encodes filamin C, which stabilizes the actin network within the cardiomyocyte. The proband is an 8-year-old asymptomatic patient with frequent premature ventricular contractions noted on serial monitoring. Interestingly, the proband and his half-brother harbored a heterozygous 13 base pair deletion that resulted in a frameshift mutation and introduction of a premature stop codon. Notably, the proband also had a very tragic family history of sudden death in young individuals involving three generations and five family members. Because of their concerning family history and arrhythmias, both siblings underwent off-label implantable cardiac device placement for primary prevention of sudden cardiac death. Whether or not the FLNC mutation is associated with sudden cardiac death requires additional investigation and is beyond the scope of this manuscript. While previous studies have identified several mutations in the FLNC gene associated with dilated and hypertrophic cardiomyopathies, the goal of this study was to report a novel mutation in the FLNC gene that is associated with cardiac arrhythmias. The current study indicates that this mutation may help identify patients at risk for cardiac arrhythmias who would benefit from further cardiac evaluation.

Fever-related arrhythmic events in the multicenter Survey on Arrhythmic Events in Brugada Syndrome

The literature on fever-related arrhythmic events (AEs) in Brugada syndrome (BrS) is currently limited to few case reports and small series. The present study aimed to describe the characteristics of fever-related AE in a large cohort of patients with BrS. The Survey on Arrhythmic Events in Brugada Syndrome is a multicenter study on 678 patients with BrS with first AE documented at the time of aborted cardiac arrest (n = 426) or after prophylactic implantable cardioverter-defibrillator implantation (n = 252). In 35 of 588 patients (6%) with available information, the AE occurred during a febrile illness. Most of the 35 patients were male (80%), Caucasian (83%), and proband (70%). The mean age at the time of AE was 29 ± 24 years (range 0.3-76 years). Most patients (80%) presented with aborted cardiac arrest and 6 (17%) with arrhythmic storm. Family history of sudden death, history of syncope, and spontaneous type 1 Brugada electrocardiogram were noted in 17%, 40%, and 71% of patients, respectively. Ventricular fibrillation was induced at electrophysiology study in 9 of 19 patients (47%). An SCN5A mutation was found in 14 of 28 patients (50%). The highest proportion of fever-related AE was observed in the pediatric population (age <16 years), with a disproportionally higher event rate in the very young (age 0-5 years) (65%). Males were involved in all age groups and females only in the pediatric and elderly groups. Fever-related AE affected 17 Caucasians aged <24 years, but no Asians aged <24 years. The risk of fever-related AE in BrS markedly varies according to age group, sex, and ethnicity. Taking these factors into account could help the clinical management of patients with BrS with fever.

CLINICAL TYPES (CLASSIFICATION) OF THE RIGHT VENTRICLE ARRHYTHMOGENIC DYSPLASIA: SPECIFICS OF DIAGNOSTICS AND MANAGEMENT

Aim. To classify established clinical types of the right ventricle arrhythmogenic dysplasia (RVAD) taken a variety of genetic and inflammatory mechanisms, and to analyze the specifics of differential diagnostics and management of the respective types. Material and methods. Main group consisted of 50 patients with evident (n=26), probable (n=13) and possible (n=11) RVAD diagnosis, mean age 38,1±14,6 y. o., males — 20 (40%), follow up time 13,5 [4; 34] months. Comparison group consisted of 58 patients with some of the RVAD criteria insufficient for evident diagnosis. All patients underwent ECG, Holter ECG 24 hours, EchoCG; in the main group additionally — DNA-diagnostics (n=46), cardiac MRI (n=44), high definition ECG (n=16), endomyocardial biopsy of the RV (n=2), autopsy (n=2). In comparison group, MRI was done in 32 patients, biopsy to 7, and in 1 case — autopsy. Results. Based upon the clinical data and specifics of the disease course, 4 types of established clinical RVAD were selected, that do not tend to overlap: latent arrhythmic (50% patients), manifest arrhythmic (20%), RVAD with predominant biventricular chronic heart failure (CHF, 16%), and RVAD with non-compaction left ventricle myocardium (14%). The development of one or another type is based on genetic factors, as on comorbid myocarditis (in percent in the following, respectively). In diagnostics of the latent arrhythmic type (frequent right ventricle extrasystoly, VE and/or non-sustained right ventricular tachicardia, VT) the key role played female sex, syncopes in anamnesis (16%), family history of sudden death (12%), ECG-criteria and positive results of DNA diagnostics (24%). For manifest arrhythmic type (sustained VT) — sudden death family anamnesis (in 20%), MRIcriteria (enlarged RV with lower EF), ECG-criteria and positive DNA tests (50%). For RVAD with progressing CHF — sustained VT (50%), syncopes (37,5%), predominance of RV failure with its severely reduced EF (25,7±15,0%), major MRI- and ECG-criteria, decreased QRS-voltage and positive DNA test (38%). Comorbidity of RVAD and non-compaction myocardium differ by frequent VE, aggressive VT (57,1%), syncope (42,9%) and CHF with significantly lower than in DCMP EF LV. Mortality rate in I-IV types was, respectively, 0%, 10%, 25%, 14,3%, and relevant shocks in 8 of 13 (61,5%) patients with ICD. Conclusion. It is worthy to use the proposed RVAD classification in clinical practice to define the spectrum of diagnostical and management events and assess the individual patient prognosis.

Risk assessment of the occurrence of sudden death related to hypertrophic cardiomyopathy in Dakar.

SummaryObjectifsLa cardiomyopathie hypertrophique (CMH) est l’une des principales causes de mort subite (MS) du sujet jeune, notamment chez le sportif de moins de 35 ans. Le niveau de risque est variable et nécessite d’être évalué afin d’adopter une stratégie préventive adaptée. Nous avons entrepris ce travail dans le but d’évaluer le risque de survenue de mort subite dans une population de CMH à Dakar.MéthodeIl s’agissait d’une étude transversale et descriptive menée à la clinique cardiologique de l’hôpital Aristide Le Dantec de Dakar du 1er Janvier 2014 au 30 Juin 2015. Nous avions évalué sur le plan clinique et paraclinique les facteurs de risque de mort subite et utilisé le score en ligne de l’European Society of Cardiology (ESC) pour le calcul de ce risque. La population étudiée était constituée de patients porteurs de CMH diagnostiquée, suivis dans ledit service.RésultatsNous avions retrouvé un âge moyen des patients de 53.25 ans et il y avait une prédominance masculine (sexratio de 1.66). La syncope inexpliquée était retrouvée chez 2 patients et 2 autres avaient des antécédents de survenue de mort subite dans leurs familles à des âges de 50 ans et 55 ans. L’hypertrophie septale maximale était en moyenne de 20.9 mm. Quatorze patients présentaient une dilatation auriculaire gauche. Sept patients présentaient une obstruction intra-ventriculaire gauche. Selon le score ESC, 1 patient avait un haut risque de survenue de mort subite dans les 5 ans, 3 un risque intermédiaire et 13 un risque faible. Le sport de compétition était proscrit, 13 patients étaient sous traitement médical, 1 avait eu un défibrillateur automatique implantable (DAI) et 2 n’étaient sous aucun traitement.ConclusionNotre travail a mis en exergue une prédominance de risque faible et intermédiaire de mort subite à 5 ans. Le haut risque existait dans un cas.

Current perspective: Osimertinib-induced QT prolongation: new drugs with new side-effects need careful patient monitoring

An increasing number of tyrosine kinase inhibitors (TKIs) are available for the treatment of non–small cell lung cancer (NSCLC). QT prolongation is one of the known, but relatively rare, adverse events of several TKIs (e.g. osimertinib, crizotinib, ceritinib). Screening for QT prolongation in (high risk) patients is advised for these TKIs. When a QT prolongation develops, the physician is challenged with the question whether to (permanently) discontinue the TKI. In this perspective, we report on a patient who developed a grade III QT prolongation during osimertinib (a third-generation epidermal growth factor receptor [EGFR]-TKI) treatment. On discontinuation of osimertinib, she developed a symptomatic disease flare, not responding to subsequent systemic treatment. The main aim of this perspective is to describe the management of QT prolongation in stage IV EGFR driver mutation NSCLC patients. We also discuss the ethical question of how to weigh the risk of a disease flare due to therapy cessation against the risk of sudden cardiac death. A family history of sudden death and a prolonged QT interval might indicate a familiar long QT syndrome. We have summarised the current monitoring advice for TKIs used in the treatment of lung cancer and the most common drug–TKI interactions to consider and to optimise TKI treatment in lung cancer patients.

Cohort of Patients Referred for Brugada Syndrome Investigation in an Electrophysiology Service - 19-Year Registry.

BackgroundBrugada syndrome (SBr) is an arrhythmic condition characterized by ST-T segment abnormalities in the right precordial leads associated with a high risk of ventricular arrhythmias and sudden death. Local data regarding the clinical characteristics of patients with a typical electrocardiographic (ECG) pattern undergoing electrophysiological study are scarce.ObjectiveTo evaluate patients with an ECG pattern suggestive of SBr referred for electrophysiological evaluation in a specialized center.MethodsCohort study of patients referred for electrophysiological study because of an ECG pattern compatible with SBr between January 1998 and March 2017.ResultsOf the 5506 procedures, 35 (0.64%) were for SBr investigation, 25 of which (71.42%) were performed in men. The mean age was 43.89 ± 13.1 years. The ECG patterns were as follows: type I, 22 (62.85%); type II, 12 (34.30%); and type III, 1 (2.85%). Twenty-three patients (65.7%) were asymptomatic, 6 (17.14%) had palpitations, 5 (14.3%) had syncope, and 3 (8.6%) had a family history of sudden death. Electrophysiological study induced ventricular tachyarrhythmias in 16 cases (45.7%), the mean ventricular refractory period being 228 ± 36 ms. Ajmaline / procainamide was used in 11 cases (31.4%), changing the ECG pattern to type I in 7 (63.6%). Sixteen cases (45.7%) received an implantable cardioverter defibrillator (ICD). In a mean 5-year follow-up, 1 of the 16 patients (6.25%) with ICD had appropriate therapy for ventricular fibrillation. There was no death. Other arrhythmias occurred in 4 (11.4%) cases.ConclusionsMost patients are men, and a type I ECG pattern is the main indication for electrophysiological study. Class IA drugs have a high ECG conversion rate. The ICD event rate was 6%.

Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction

BackgroundCohort studies have revealed an increased risk for ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients with atrial fibrillation (AF). In this study, we hypothesized that single nucleotide polymorphisms (SNP) previously associated with AF may be associated with the risk of VF caused by first ST-segment elevation myocardial infarction (STEMI).MethodsWe investigated association of 24 AF-associated SNPs with VF in the prospectively assembled case–control study among first STEMI-patients of Danish ancestry.ResultsWe included 257 cases (STEMI with VF) and 537 controls (STEMI without VF). The median age at index infarction was 60 years for the cases and 61 years for the controls (p = 0.100). Compared to the control group, the case group was more likely to be male (86% vs. 75%, p = 0.001), have a history of AF (7% vs. 2%, p = 0.006) or hypercholesterolemia (39% vs. 31%, p = 0.023), and a family history of sudden death (40% vs. 25%, p < 0.001). All 24 selected SNPs have previously been associated with AF. None of the 24 SNPs were associated with the risk of VF after adjustment for age and sex under additive genetic model of inheritance in the logistic regression model.ConclusionIn this study, we found that the 24 AF-associated SNPs may not be involved in increasing the risk of VF. Larger VF cohorts and use of new next generation sequencing and epigenetic may in future identify additional AF and VF risk loci and improve our understanding of genetic pathways behind the two arrhythmias.

Drugs and life-threatening ventricular arrhythmia risk: results from the DARE study cohort

ObjectivesTo establish a unique sample of proarrhythmia cases, determine the characteristics of cases and estimate the contribution of individual drugs to the incidence of proarrhythmia within these cases.SettingSuspected proarrhythmia cases...

Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis

Hypertrophic cardiomyopathy (HCM) is a clinically and genetically heterogeneous disorder but data on survival rates are still conflicting and have not so far been quantitatively reviewed. The aim of this study is to conduct a meta-analysis of cohort studies to assess pooled survival rates and prognostic factors for survival in patients with HCM. Nineteen studies were included representing 12,146 HCM patients. The pooled 1-, 3-, 5- and 10-year survival rates were 98.0%, 94.3%, 82.2% and 75.0%, respectively. Among patients with HCM, age, NYHA functional class, family history of sudden death (FHSD), syncope, atrial fibrillation, non-sustained ventricular tachycardia (nsVT), maximum left ventricular wall thickness and obstruction were significant prognostic factors for cardiovascular death. For sudden cardiac death, FHSD, nsVT, and obstruction showed significant predictive values. Moreover, estimation of population attributable risk (PAR) suggested that nsVT was the strongest predictor for cardiovascular death (13.02%, 95% CI 3.60–25.91%), while left ventricular outflow tract obstruction/mid-ventricular obstruction (LVO/MVO) was the strongest predictor for all-cause death and sudden cardiac death (10.09%, 95% CI 4.72–20.42% and 16.44%, 95% CI 7.45–31.55%, respectively). These risk factors may thus be useful for identifying HCM patients who might benefit from early diagnosis and therapeutic interventions.

P4-5 - A Case Report of Left Ventricular Noncompaction With Syncope Due to Adams-Stokes Syndrome, Requiring ICD Implantation

Objective: I reported a case diagnosed as left ventricular noncompaction (LVNC) after Adams-Stokes syndrome complicated with traumatic subarachnoid hemorrhage and acute subdural hematoma. Case Presentation: A 78-year-old man with family history of sudden death was diagnosed as atrial fibrillation and suspected as dilated cardiomyopathy by home doctor. After he fell down and had head trauma because of syncope during walking without symptom, he got seizure at home, transferred to our hospital by helicopter emergency medical service. Head CT showed traumatic subarachnoid hemorrhage and acute subdural hematoma, and Adams-Stokes syndrome was suspected. His echocardiography showed left ventricular ejection fraction about 30% with diffuse hypokinesis, and remarkable trabeculations at lateral wall with blood flow confirmed by color Doppler. Cardiac magnetic resonance showed trabeculations at lateral wall with late gadlinium enhancement and noncompaction to compaction ratio above 2. Considering these findings, we diagnosed as LVNC. Holter electrocardiography showed non-sustained ventricular tachycardia, and electrophysiological study resulted in induction of ventricular tachycardia and ventricular fibrillation. We decided ICD implantation with judgement as class I. He was discharged with carvedilol 10 mg, perindopril 6 mg, spironolactone 25 mg. Conclusion: I experienced a rare case of LVNC after syncope due to Adams-Stokes syndome, requiring ICD implantation.

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

Unexplained cardiac arrest may be because of an inherited arrhythmia syndrome. The role of genetic testing in cardiac arrest survivors without a definite clinical phenotype is unclear. The CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) is a large registry of cardiac arrest survivors where initial assessment reveals normal coronary arteries, left ventricular function, and resting ECG. Of 375 cardiac arrest survivors in CASPER from 2006 to 2015, 174 underwent genetic testing. Patients were classified as phenotype-positive (n=72) or phenotype-negative (n=102). Genetic testing was performed at treating physicians' discretion in line with contemporary guidelines and availability. All genetic variants identified from original laboratory reports were reassessed by the investigators in line with modern criteria. Pathogenic variants were identified in 29 (17%) patients (60% channelopathy-associated and 40% cardiomyopathy-associated genes) and 70 variants of unknown significance were identified in 32 (18%) patients. Prior syncope (odds ratio, 4.0; 95% confidence interval, 1.6-9.7) and a family history of sudden death (odds ratio, 3.2; 95% confidence interval, 1.1-9.4) were independently associated with the presence of a pathogenic variant. In phenotype-negative patients, broad multiphenotype genetic testing led to higher yields (21% versus 8%; P=0.04) but was associated with more variants of unknown significance (55% versus 5%; P<0.01). Genetic testing identifies a pathogenic variant in a significant proportion of unexplained cardiac arrest survivors. Prior syncope and family history of sudden death are predictors of a positive genetic test. Both arrhythmia and cardiomyopathy genes are implicated. Broad, multiphenotype testing revealed the highest frequency of pathogenic variants in phenotype-negative patients. https://www.clinicaltrials.gov. Unique Identifier: NCT00292032.

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity

Congenital long QT syndrome (LQTS) is an inherited, potentially fatal arrhythmogenic disorder. At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases. LQTS is mostly inherited in an autosomal dominant pattern. Systemic analysis of LQTS has not been previously conducted in a population with a high degree of consanguinity. To describe the clinical and molecular profiles of LQTS in the highly consanguineous Saudi population. Fifty-six Saudi families with LQTS were consecutively recruited and evaluated. Sequencing of KCNQ1, KCNH2, and SCN5A genes was conducted on all probands, followed by screening of family relatives. Genetic analysis was positive in 32 (57.2%) families, with mutations in KCNQ1 identified in 28 families (50%). Surprisingly, 17 (53.1%) probands were segregating homozygous mutations. Family screening identified 123 individuals with mutations; 89 (72.4%) were heterozygous, 23 (18.7%) were homozygous, and 11 (8.9%) were compound heterozygous. Compared to heterozygous, the phenotype was more severe in homozygous individuals, with cardiac symptoms in 78.3% (vs 12.4%), family history of sudden death in 64.7% (vs 44.4%), and prolonged QT interval in 100% (vs43.8%). Congenital deafness was found in 11 (47.8%) homozygous probands. Our study provides insight into the clinical and molecular profiles of LQTS in a consanguineous population. It underscores the importance of preemptive management in homozygous patients with LQTS and the value of clinical and molecular screening of at-risk relatives.

Relevance of molecular testing in patients with a family history of sudden death

Sudden cardiac death (SCD) is a major cause of death in industrial countries. Although SCD occurs mainly in adults, it may also affect young persons, where genetic cardiac disorders comprise at least half of these cases. This includes primary arrhythmogenic disorders such as long QT syndrome and inherited cardiomyopathies. However, in many cases, postmortem examinations provide no conclusive results explaining the cause of death. Since family members of the deceased may eventually have inherited the same disease, they are at risk of SCD.In the present study, 28 patients with a family history of sudden unexplained death (SUD), of survived cardiac arrest and with a clinical diagnosis of an inherited cardiac disease were screened using phenotype-guided molecular analysis of genes associated with arrhythmogenic cardiac diseases. In 64% of the cases, gene variants with potentially pathogenic cardiac effects were detected suggesting that an arrhythmia syndrome may have caused the death of the deceased family member. Therefore, we recommend that relatives of SUD victims should undergo extended cardiac examination and, depending on the clinical diagnosis, a targeted genetic analysis should follow, which is crucial to identify family members at risk.

Early Repolarization in Normal Adolescents is Common.

In adults with structurally normal hearts, the early repolarization pattern (ERP) on electrocardiogram (ECG) may be associated with an increased risk of sudden cardiac death. The prevalence and significance of the ERP in children is unknown. This study examines the prevalence of the ERP, the population in which it is found, and whether there exists any correlation with increased LV mass or family history of significant cardiac events. This was a secondary review of data obtained from healthy adolescents undergoing a limited ECG and transthoracic echocardiogram (TTE) as part of a cardiac screening study. Subjects were excluded if ECG revealed known arrhythmic syndromes or TTE revealed structural abnormalities. ERP was defined as (1) notching or slurring of the terminal QRS; (2) elevation of the QRS-ST junction ≥1mV; and (3) upwardly concave positive T-wave. Left ventricular (LV) mass was defined as mass/height2.7. Patient demographics, LV mass, family history of sudden death, arrhythmia, and/or ICD/pacemaker placement were compared for subjects with and without ERP on ECG. Data from 575 subjects (median age 15, range 13-18; 36% female; 93% Caucasian) were reviewed. The incidence of ERP was 40% (n = 228) and was seen in the inferior, lateral, or combination of these leads in 42, 10, and 48% of subjects with ERP, respectively. There was no difference in gender (p = 0.7), race (p = 0.7), age (p = 0.3), history of syncope (p = 0.2), LV mass (p = 0.8), family history of (a) sudden death (p = 0.5), (b) arrhythmia (p = 0.2), or (c) ICD/pacemaker requirement (p = 0.8) in subjects with ERP versus those without. However, a greater percentage of patients with ERP were noted to play football, when compared to those without ERP (34 vs. 13%, p < 0.001). ERP is common in healthy adolescents, and does not correlate with concerning personal/family history or elevated LV mass. Longitudinal studies are required to determine whether ERP in childhood confers an increased mortality risk.

Survey of EKG Monitoring Practices: A Necessity or Prolonged Nuisance?

Survey of EKG Monitoring Practices: A Necessity or Prolonged Nuisance?

Geriatric Syncope and Cardiovascular Risk in the Emergency Department

BackgroundSyncope is a transient loss of consciousness that is caused by a brief loss in generalized cerebral blood flow. ObjectiveThis article reviews the background, epidemiology, etiologies, evaluation, and disposition considerations of geriatric patients with syncope, with a focus on cardiovascular risk. DiscussionAlthough syncope is one of the most common symptoms in elderly patients presenting to the emergency department, syncope causes in geriatric patients can present differently than in younger populations, and the underlying etiology is often challenging to discern. History, physical examination, and electrocardiography (ECG) have the greatest utility in evaluating syncope. Additional testing should be guided by history and physical examination. There are multiple scoring tools developed to aid in management and these are reviewed in the article. Common predictors that would indicate a need for further work-up include a history of cardiac or valvular disease (i.e., ventricular dysrhythmia, congestive heart failure), abnormal ECG, anemia or severe volume depletion (i.e., from a gastrointestinal bleed), syncope while supine or with effort, report of palpitations or chest pain, persistent abnormal vital signs, or family history of sudden death. With advancing age, cardiovascular morbidity plays a more frequent and important role in the etiology of syncope. ConclusionsThe syncope work-up should be tailored to the patient's presentation. Disposition should be based on the results of the initial evaluation and risk factors for adverse outcomes.

A Common Variant in SCN5A and the Risk of Ventricular Fibrillation Caused by First ST-Segment Elevation Myocardial Infarction.

BackgroundSeveral common genetic variants have been associated with either ventricular fibrillation (VF) or sudden cardiac death (SCD). However, replication efforts have been limited. Therefore, we aimed to analyze whether such variants may contribute to VF caused by first ST-elevation myocardial infarction (STEMI).MethodsWe analyzed 27 single nucleotide polymorphisms (SNP) previously associated with SCD/VF in other cohorts, and examined whether these SNPs were associated with VF caused by first STEMI in the GEnetic causes of Ventricular Arrhythmias in patients with first ST-elevation Myocardial Infarction (GEVAMI) study on ethnical Danes. The GEVAMI study is a prospective case-control study involving 257 cases (STEMI with VF) and 537 controls (STEMI without VF).ResultsOf the 27 candidate SNPs, one SNP (rs11720524) located in intron 1 of SCN5A which was previously associated with SCD was significantly associated with VF caused by first STEMI. The major C-allele of rs11720524 was present in 64% of the cases and the C/C genotype was significantly associated with VF with an odds ratio (OR) of 1.87 (95% CI: 1.12–3.12; P = 0.017). After controlling for clinical differences between cases and controls such as age, sex, family history of sudden death, alcohol consumption, previous atrial fibrillation, statin use, angina, culprit artery, and thrombolysis in myocardial infarction (TIMI) flow, the C/C genotype of rs11720524 was still significantly associated with VF with an OR of 1.9 (95% CI: 1.05–3.43; P = 0.032). Marginal associations with VF were also found for rs9388451 in HEY2 gene. The CC genotype showed an insignificant risk for VF with OR = 1.50 (95% CI: 0.96–2.40; P = 0.070).ConclusionOne common intronic variant in SCN5A suggested an association with VF caused by first STEMI. Further studies into the functional abnormalities associated with the noncoding variant in SCN5A may lead to important insights into predisposition to VF during STEMI.

Highlights in this issue

An apparent life-threatening event (ALTE) is when a baby demonstrates one or more of the following for less than a minute: bluish skin, poor breathing, weakness or poor responsiveness. Monti et al 1 used a regional database to study the occurrence of ALTEs in Northern Italy from 2002 to 2006. The incidence was 4.1 cases per 1000 live births, and the presence of gastroesophageal reflux and a family history of sudden death were found to be significant risk factors. If an ALTE is unexplained after a thorough investigation, the recommended term is now a brief resolved unexpected event (BRUE), and if it occurs immediate after birth, the term sudden unexpected postnatal collapse (SUPC) is used. See the accompanying editorial by Herlenius 2. This issue contains two papers on food allergies. Strinnholm et al 3 investigated adolescents’ experiences after a double-blind placebo-controlled food challenge. Reintroduction failure was common and was associated with fear of reactions, not appreciating the taste of the food and living a normal life without the challenged food. In the second study, Kukkonen et al 4 looked at peanut oral immunotherapy in a double-blind, placebo-controlled trial of children aged 6–18 years. They found that it was effective for severe allergies and did not have any negative effects on airway inflammation. All women with preterm labours between 24 and 34 weeks of gestation should receive antenatal corticosteroid prophylaxis to improve the lung maturation of their offspring. However, Gagliardi et al 5 found that 15% of women delivering very preterm infants in a highly organised network of hospitals in Tuscany, Italy, did not receive antenatal corticosteroids. Late hospital admission and migrant status were the main factors associated with missed prophylaxis. Cuttini 6 comments on the findings. Acute rhinosinusitis is common in young children, and in certain cases, it may lead to serious bacterial infections with orbital and intracranial complications. Schollin Ask et al 7 studied the incidence of acute rhinosinusitis in tertiary care in Stockholm County, Sweden, between 2003 and 2007 and surveyed the clinical outcomes. They found that most children hospitalised for acute rhinosinusitis had an orbital complication and that this was more common in children under the age of two years and in boys. Severe postseptal complications were rare. This Swedish study describes how parents of 86 infants perceived their own sleep while their infant was in a neonatal intensive care unit and after discharge. Mothers were more likely to report severe insomnia than fathers during their infants’ hospitalisation, and the higher insomnia severity scores were associated with more severe infant sleep problems after discharge. Thernström Blomqvist et al 8 concluded that parents need support to optimise their sleep, as parents’ sleeping problems seem to affect their child's sleeping pattern.