Family History Of Syncope Research Articles

Postural Orthostatic Tachycardia Syndrome (POTS). Follow – Up of 25 cases

Background: Postural orthostatic tachycardia syndrome (POTS) is a clinical syndrome diagnosed when orthostatic intolerance and tachycardia appear in the standing position. POTS significantly impairs patients' quality of life. Aim: To report the symptoms, anamnestic and clinical elements, findings in the Tilt Test (HUT), evolution and treatment of POTS patients with a follow-up from 8 months to 28 years. Material and Methods: We reviewed from march 1996 to june 2024, 1269 HUT exams in our laboratory. Those reports in which orthostatic postural tachycardia and symptoms compatible with POTS appeared, were selected for analysis. Results: We identified 25 patients (2.6% of all positive Tilt test reports) with compatible signs and symptoms. Most patients complained of orthostatic intolerance, dizziness and frequent fainting. There was a delay of 8 -10 years between the onset of symptoms and the time of diagnosis. Orthostatic tachycardia and symptoms occurred on average after 3.5 and 5.2 minutes, respectively, when staying in the standing position. Our patients had a high frequency of syncope or presyncope in their families (60% frequency) and hypermobility joint syndrome (64% prevalence). 40% of the patients reported relief of their symptoms after being treated (most of them with fludrocortisone). Most patients that reported little or no relief, did not use medications or were treated for a short period. Conclusions: POTS is not common but significantly impairs the quality of life of those who suffer from it. We found a clear association with joint hypermobility syndrome, an excessive venous pooling during standing and a family history of syncope or lipothymia. Best treament is with fludrocortisone alone or in combination with midodrine.

Triggers, Risk Factors, and the Prevalence of Syncope Among Domestic Hajj Pilgrims, 2023: A Cross-Sectional Study.

Syncope and other transient loss of consciousness episodes in crowded and unfamiliar environments may lead to major health hazards. Despite numerous publications, data on syncope among Hajj pilgrims in Makkah is lacking. To identify the triggers, risk factors, and prevalence of syncope and other transient loss of consciousness episodes among domestic pilgrims. This cross-sectional study included a convenient sample of domestic pilgrims who performed Hajj in July 2023 using an online Google Forms questionnaire (Alphabet Inc., Mountain View, CA). Out of388 participants, 69 (18.1%) reported a history of syncope during the Hajj pilgrimage. Among these, 57 (82.6%) reported complete loss of consciousness, and 56 (81.2%) noted warning symptoms preceding the episode. The syncopal attack occurred once in 49 respondents (71%). Several triggers for syncope were identified, withsudden standing from a sitting position being the most prevalent (100%). Additional co-triggers were crowding (n=43; 62.3%), stressful conditions (n=30; 43.2%), prolonged standing (n=21; 30.4%), and walking (n=11; 15.9%). Traumatic injuries were reported in 33 (47.8%) as a result of syncope. Standing for long periods of time on the day of Arafat (Arafat standing) emerged as the most common triggering situation (n=48; 69.6%). There were multiple medical factors contributing tosyncopal episodes; the most common medical explanations were heat exhaustion (n=48; 69.6%), dehydration (n=24; 34.8%), over-exertion (n=48; 69.6%), low blood sugar (n=10; 14.5%), and low blood pressure (n=17; 24.6%). Significant predictors were the presence of cardiac disease (odd ratio (OR) 7.6, 95% confidence interval (CI) 2.71-21.45, p<0.001), anemia (OR 2.5, 95% CI 1.01-6.09, p=0.049), previous syncope (OR 2.5, 95% CI 1.02-6.27, p=0.049, and family history of syncope (OR 10.1, 95% CI 2.08-49.32, p=0.004). Syncope during the domestic Hajj pilgrimage is frequent, especially on the day of Arafat, and carries the risk of traumatic injury. People with previous episodes of syncope and comorbidities, especially cardiac patients and those who have a family history of syncope, are particularly prone to this risk. Healthcare should focus on at-riskpatients, particularly on critical pilgrimage days, and increase pilgrims' awareness about triggers of syncope including sudden and prolonged standing, exertion, and heat exposure.

Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.

Catecholaminergic polymorphic ventricular tachycardia is an ion channelopathy, caused by mutations in genes coding for calcium-handling proteins. It can coexist with left ventricular non-compaction. We aim to investigate the clinical and genetic characteristics of this co-phenotype. Medical records of 24 patients diagnosed with catecholaminergic polymorphic ventricular tachycardia in two Chinese hospitals between September, 2005, and January, 2020, were retrospectively reviewed. We evaluated their clinical and genetic characteristics, including basic demographic data, electrocardiogram parameters, medications and survival during follow-up, and their gene mutations. We did structural analysis for a novel variant ryanodine receptor 2-E4005V. The patients included 19 with catecholaminergic polymorphic ventricular tachycardia mono-phenotype and 5 catecholaminergic polymorphic ventricular tachycardia-left ventricular non-compaction overlap patients. The median age of onset symptoms was 9.0 (8.0,13.5) years. Most patients (91.7%) had cardiac symptoms, and 50% had a family history of syncope. Overlap patients had lower peak heart rate and threshold heart rate for ventricular tachycardia and ventricular premature beat during the exercise stress test (p < 0.05). Sudden cardiac death risk may be higher in overlap patients during follow-up. Gene sequencing revealed 1 novel ryanodine receptor 2 missense mutation E4005V and 1 mutation previously unreported in catecholaminergic polymorphic ventricular tachycardia, but no left ventricular non-compaction-causing mutations were observed. In-silico analysis showed the novel mutation E4005V broke down the interaction between two charged residues. Catecholaminergic polymorphic ventricular tachycardia overlapping with left ventricular non-compaction may lead to ventricular premature beat/ventricular tachycardia during exercise stress test at lower threshold heart rate than catecholaminergic polymorphic ventricular tachycardia alone; it may also indicate a worse prognosis and requires strict follow-up. ryanodine receptor 2 mutations disrupted interactions between residues and may interfere the function of ryanodine receptor 2.

Sudden Cardiac Death Risk Stratification of the Early Repolarization Syndrome: An Updated Review of the Literature.

Early repolarization syndrome (ERS), once thought to be innocuous, has now been shownto be responsible for ventricular arrythmias and sudden cardiac death occurrence. This review will help the clinicianto identify the patients who are most at risk for arrhythmias,so that they can adopt a preventive or secondary treatment approach, either of which is still poorly defined. Patients at high risk are found to be particularly young men, with a personal or family history of syncope or sudden death, who have an inferolateral ER on the electrocardiogram, more elevated J-point, longer J-wave duration and wider J angle, a horizontal or descending ST segment, lower T/R ratio, and small and/or inverted waves. The association with a structural heart disease or another channelopathy potentiates this arrhythmic risk. Taken together, these parameters allow prediction of the malignancy of ER pattern with a certain reliability. Further research is however needed to develop concrete risk stratification algorithms and the therapeutic strategies taken in function of it.

Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.

Neurally mediated syncope (NMS) is a common clinical problem. The underlying genetic factors of NMS remain controversial. We hypothesized that cardiac syncope-related genes may contribute to NMS in patients with previous frequent syncopal episodes and/or a family history of syncope. A total of 54 consecutive patients diagnosed with NMS were prospectively enrolled between 2013 and 2016. Inclusion criteria were more than five syncopal episodes with a family history of syncope (n = 17) or more than five syncopal episodes with no family history of syncope (n = 37). Ninety-eight cardiac syncope-related genes (channelopathy: 43 genes, cardiomyopathy: 50 genes, primary pulmonary hypertension: 5 genes) were screened by exome sequencing. All identified variants were classified according to the standards and guidelines by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Of the 54 patients, 17 patients (31.5%) had a family history of syncope. Two patients (3.7%) had pathogenic and likely pathogenic variants (PV/LPV) in cardiac syncope-related genes TTN and MYH7. We investigated genetic variation in patients with frequent NMS with a positive family history of syncope in Korea. PV/LPVs in genes related to cardiomyopathy were associated with recurrent NMS in Korean patients. Closer follow-up of these patients might be needed.

Temper Tantrums and Breath-Holding Spells

Temper Tantrums and Breath-Holding Spells

Differential Diagnosis Between Psychogenic Pseudosyncope and Vasovagal Syncope in Children: A Quantitative Scoring Model Based on Clinical Manifestations.

The study was designed to explore a clinical manifestation-based quantitative scoring model to assist the differentiation between psychogenic pseudosyncope (PPS) and vasovagal syncope (VVS) in children. In this retrospective case-control study, the training set included 233 pediatric patients aged 5–17 years (183 children with VVS and 50 with PPS) and the validation set consisted of another 138 patients aged 5–15 years (100 children with VVS and 38 with PPS). In the training set study, the demographic characteristics and clinical presentation of patients were compared between PPS and VVS. The independent variables were analyzed by binary logistic regression, and the score for each variable was given according to the approximate values of odds ratio (OR) to develop a scoring model for distinguishing PPS and VVS. The cut-off scores and area under the curve (AUC) for differentiating PPS and VVS cases were calculated using receiver operating characteristic (ROC) curve. Then, the ability of the scoring model to differentiate PPS from VVS was validated by the true clinical diagnosis of PPS and VVS in the validation set. In the training set, there were 7 variables with significant differences between the PPS and VVS groups, including duration of loss of consciousness (DLOC) (p < 0.01), daily frequency of attacks (p < 0.01), BMI (p < 0.01), 24-h average HR (p < 0.01), upright posture (p < 0.01), family history of syncope (p < 0.05) and precursors (p < 0.01). The binary regression analysis showed that upright posture, DLOC, daily frequency of attacks, and BMI were independent variables to distinguish between PPS and VVS. Based on the OR values of each independent variable, a score of 5 as the cut-off point for differentiating PPS from VVS yielded the sensitivity and specificity of 92.0% and 90.7%, respectively, and the AUC value was 0.965 (95% confidence interval: 0.945–0.986, p < 0.01). The sensitivity, specificity, and accuracy of this scoring model in the external validation set to distinguish PPS from VVS were 73.7%, 93.0%, and 87.7%, respectively. Therefore, the clinical manifestation-based scoring model is a simple and efficient measure to distinguish between PPS and VVS.

Frequency and predictors of physical trauma during reflex syncope

Abstract Background Reflex syncope is a common and generally benign condition; however, the occurrence of secondary trauma can be a potentially harmful complication. Identification of characteristics and conditions associated with trauma after syncope are important for clinicians. Purpose We aimed to investigate the frequency and predictors of secondary injury during reflex syncope in a large dataset from a tertiary syncope unit. Methods All patients referred with an episode of transient loss of consciousness between December 2017 and November 2020 were evaluated. Patients who received a diagnosis of reflex syncope based on 2018 European Society of Cardiology guidelines entered the study. Clinical characteristics, conditions surrounding syncope, and – in patients with a history of previous episodes – a detailed history of up to three prior syncopal attacks were documented. The primary outcome was the presence of any clinically relevant injury that was related to syncope. In a secondary per-episode analysis, the outcome was a combination of traumatic injuries related to the current and past syncopal episodes. Results Among 1258 consecutive patients with reflex syncope (Mean age: 42.3 years; 49.6% female), 239 (23.3%) had evidence of trauma in their initial visit. Female sex (prevalence ratio [PR]: 1.24; P=0.037), body mass index ≥25 kg/m2 (PR: 1.28; P=0.016), previous injury caused by syncope (PR: 1.63; P&amp;lt;0.001), occurrence of syncope in morning hours (PR: 1.90; P&amp;lt;0.001), occurrence of syncope at home (PR: 1.61; P&amp;lt;0.001), absence of prodromes (PR: 1.32; P=0.024), and standing position at the time of syncope (PR: 1.61; P&amp;lt;0.001) were associated with injury. Although family history of syncope was not related to injury, history of syncope in brother showed a significant association with secondary trauma (PR: 2.19; P=0.003). In multivariable logistic regression, five characteristics (previous injury after syncope, occurrence of syncope in the morning, occurrence of syncope at home, absence of prodromes, and standing position at the time of syncope) were independent predictors of injury. In the absence of all five conditions, the risk of injury was &amp;lt;3%. In the secondary per-syncope analysis, of 2849 syncopal episodes, 1028 (36.1%) were associated with trauma. Having syncope in the morning (PR: 1.34; P&amp;lt;0.001), occurrence of syncope at home (PR: 1.51; P&amp;lt;0.001), absence of prodromes (PR: 1.34; P&amp;lt;0.001), and standing position at the time of syncope (PR: 1.55; P&amp;lt;0.001) were again associated with injury. Conclusions Secondary trauma after reflex syncope is a common complication. Specific conditions at the time of syncope are associated with traumatic injuries, suggesting that interventions to avoid syncopal attacks in those conditions might reduce secondary trauma. Funding Acknowledgement Type of funding sources: Public Institution(s). Main funding source(s): Tehran University of Medical Sciences

The clinical characteristics of situational syncope in children and adults undergoing head-up tilt testing

ObjectiveSituational syncope is a subtype of neurally mediated syncope and associated with specific circumstances. This paper is to assess the clinical characteristics and underlying causes of situational syncope. MethodsThis is a retrospective study of patients who underwent head-up tilt testing (HUTT). Medical records including age at HUTT, gender, number of syncopal episodes, family history of syncope, triggers before the syncopal episode, position during the syncopal episode and the responses to HUTT were reviewed. ResultsAmong 3140 patients, 354 patients (mean age 28.3 ± 16.6 years old, with 184 males and 170 females) were diagnosed with situational syncope. The causes of situational syncope included micturition (50.85%), defecation (15.82%), bathing (10.45%), swallowing (6.50%), cough (4.80%), post-dinner (3.95%), singing (3.11%), teeth brushing (2.26%), and hair grooming (2.26%). Patients with syncope triggered by micturition, cough, post-dinner were more likely to be men, while those caused by bathing, swallowing, singing, teeth brushing and hair grooming were more likely to be women. 34.75% of patients with situational syncope were between the ages of 10–19 years old, and 20.34% were between the ages of 40–49 years old. 74.01% of situational syncopal events occurred in an upright position. 47.74% of patients had positive responses to HUTT. ConclusionsThese findings show that micturition was the most common cause of situational syncope in both children and adults. There were significant gender and age differences among situational syncope triggered by different causes. Most of situational syncope occurred in the upright position and nearly half of the patients had positive responses to HUTT.

Different patterns of tilt-table test outcome in children and their response to medications

Background Syncope is a common and often frustrating clinical problem encountered by pediatricians in outpatient or emergency room settings. Neurocardiogenic syncope is believed to be the most common cause of syncope in the absence of structural heart disease. In our study, we aimed to study different responses to tilting-table test among children and teenagers with suspected neurocardiogenic syncope. Patients and methods We collected data from patients of Ain Shams Hospital who presented with more than two attacks of syncope and got positive tilt-table test findings. All the patients were subjected to thorough history taking, full cardiac examination, and a tilt-table test. Patients were later followed up for 2 months for recurrence. Results Our study included data from 30 patients, of which 19 were females, and seven were on antiepileptic drugs. Approximately 20% of patients had a family history of epilepsy, and 10% had a family history of syncope. Prolonged standing especially in hot weather was the most common predisposing factor for their syncopal attacks. Palpitation and dizziness were the most common symptoms occurring before the attack, whereas palpitation and headache commonly affected these patients after syncope. Physical examination of these patients revealed no specific abnormality, and their hemoglobin level and random blood sugar level also revealed no specific abnormality. Tilt-table test was done to all the patients and revealed that ∼75% showed a vasodepressor response; however, only ∼23% showed a mixed response and no patients demonstrated cardioinhibitory response. No complications were reported during the test. The study revealed a significant negative correlation between the frequency of the attacks and initiation-response lag (r=−0.676, P&lt;0.001), meaning that the more the attack numbers of syncope, the earlier the occurrence of positive response in tilt-table test. All patients in the study received midodrine tablets together with diet modification and tilt training for 2 months. They were followed up for recurrence of syncope and only ∼16% of these patients showed recurrence. On asking patients with recurrence, they stated that they were noncompliant neither to the treatment nor to the exercise. Conclusion It is evident that tilt-table test is a safe and effective test to diagnose neurocardiogenic syncope in children and teenagers and that vasodepressor response is more common than both mixed and cardioinhibitory responses in children and teenagers. Midodrine, diet modification, and tilt training are effective management of neurocardiogenic syncope in children and teenagers.

Association Between Baseline Blood Pressures, Heart Rates, and Vasovagal Syncope in Children and Adolescents.

Background: Vasovagal syncope is the most common cause of syncope in children and adults, accounting for 50-66% of unexplained syncope. There are no studies establishing the relationship between syncope, baseline heart rate, and blood pressure.Objective: To identify a possible association between baseline blood pressure and heart rate with syncope.Design/Methods: We conducted a questionnaire-based chart review study. A questionnaire was distributed to the guardian of children between eight and 18 years of age who attended the Pediatric Ambulatory Care Clinic at Flushing Hospital Medical Center. Based on the responses in the questionnaire, subjects were classified either as cases (positive for syncope) or controls (negative for syncope). Children and adolescents with neurological, cardiac, or any medical condition that can cause syncopal episodes were excluded from the study. Data collected from the questionnaire included age, gender, ethnicity, medical history, family history of syncope, and the amount of salt used in food. Anthropometric and vital signs for the current visit (height, weight, BMI, blood pressure, and heart rate) and vital signs from two previous visits were collected from electronic medical records. The data was analyzed using t-test and chi-square test with Microsoft Excel software (Microsoft Office Standard, v. 14, Microsoft; 2010); p<0.05 was considered significant.Results: A total of 197 subjects were included in this study. There were 18 cases and 179 controls. Of the cases, (4/18) 22.2% were more likely to have a systolic blood pressure lower than the 10th percentile for their gender, age, and height as compared with controls (7/179) 3.9%, p = 0.003. The subjects with a history of syncope were more likely to add salt to their food (p = 0.004). There were no significant differences between cases and controls for age, gender, ethnicity between cases and controls for systolic blood pressure. No significant difference was observed between the heart rates of cases and controls.Conclusions: Children and adolescents with syncope were more likely to have a systolic blood pressure lower than the 10th percentile, and there was no difference in the baseline heart rate. In addition, children with syncope were more likely to add salt to their food.

Sudden cardiac death and syncope of unknown origin: Think about catecholaminergic polymorphic ventricular tachycardia!

Sudden cardiac death (SCD) or syncope may remain unexplained after extensive cardiac investigations. However, genetic testing may help to establish a clear diagnosis in a substantial proportion of these cases. We here report our experience in 5 patients referred for SCD or syncope of unknown origin, in whom the diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) was given by genetic testing. The studied population encompasses 5 patients (3 females) mean age: 39.8 ± 12.3y (20–53y) of 5 different families. Age at first symptoms was 14.6 ± 9.2y (5–26y); a family history of syncope or SCD was present in 3 out of 5 patients and uncertain in 1 patient. Syncope was the first symptom in 4 patients and aborted SCD in 1 patient; it occurred mainly during stress or effort. Resting ECG was normal in 4 out of 5 patients and in only one patient showed polymorphic ESV. Structural cardiomyopathy was absent for all patients. Stress test triggered ventricular arrhythmias in 4 patients. When performed, Holter monitoring was irrelevant in 2/4 patients. Programmed ventricular stimulation was negative in 2/2 patients. The first medical diagnoses were: epilepsy, long QT syndrome for 2 patients, vaso-vagal syncope and SCD of unknown origin. Genetic testing performed 23.8 ± 11.5y (11–35y) after the initial event revealed mutation either in the RYR2, CASQ2 or KCNJ2 for all 5 patients. All patients are asymptomatic under drug treatment ± an implantable cardioverter defibrillator. In all cases, extensive familial screening has been proposed and is ongoing. In patients with SCD or syncope of unknown origin and normal anatomical heart, CPVT has to be considered as a potential cause even in patients with a normal stress test. Genetic testing should be more often considered in these patients to avoid missing this pathology, which is usually controlled with beta-blocking agents.

Wide QRS in a 2-month infant associated with recurrent ventricular tachycardia: A case of Brugada-like syndrome

We report the case of a 2-month old infant who experienced recurrent sustained ventricular tachycardia (VT) in a structurally normal heart. Resting electrocardiogram (ECG) showed wide QRS with a complete right bundle branch bloc (RBBB) morphology. There was no family history of syncope or sudden death, but the ECGs of the father and the brother showed incomplete RBBB with negative T waves on V1 lead. This case seems to fit well with the newly defined entity of Brugada-like syndrome with a highly suspected genetic underlying disposition.

Syncope is a frequently under-diagnosed condition in infants and toddlers and has similar features to those seen in adolescents and adults.

Vagal syncope may not be readily recognised by the caregivers of younger children, often leading to extensive diagnostic evaluation. Our aim was to determine the characteristics of syncope in younger children and to assess whether this age group was more prone to undergoing extensive diagnostic work-ups and receiving wrong aetiological diagnoses. We collected clinical data on children up to six years of age, referred to our paediatric neurology clinic between 2007 and 2014 following one or more episodes of sudden loss of consciousness. A family history of syncope was present in 59.5% of the 37 children, and a trigger for syncope was identified in 30 children. Most of the episodes were short, with witnesses reporting an immediate or quick recovery. Most of the children underwent diagnostic procedures, particularly an electroencephalogram, and all the results were normal. Epilepsy did not develop in any of these cases. Syncope recurred in 22 patients during a two-year follow-up. Vagal syncope had similar features in toddlers and young children to those seen in adolescents and adults. Its diagnosis should be considered following loss of consciousness due to an identifiable trigger and rapidly regaining consciousness to avoid unnecessary diagnostic procedures and hospitalisation.

Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations

Background Congenital long QT syndrome (LQTS) is an ion channelopathy associated with genetic mutations. It is well known that most LQTS patients (91%) have a single mutation. The purpose of this study was to investigate the clinical characteristics of congenital LQTS patients with bigenic mutations in Taiwan, China. Methods Congenital LQTS patients were recruited consecutively at Taiwan University Hospital in Taiwan from 2003 to 2009. The diagnosis of LQTS was defined by an LQTS Schwartz score greater than 4. Mutation screening in KCNQ1, KCNH2, KCNE1, and SCN5A was performed using direct sequencing. Results Three of 16 LQTS patients (18.7%) were identified with bigenic mutations. One patient had missense mutations in KCNQ1 and KCNH2, the second in KCNQ1 and KCNE1, and the third in KCNH2 and SCN5A. The mean age at onset of LQTS for patients with bigenic mutations was (17±3) years, and all of these patients were female. Two of them experienced seizure and one presented with syncope, although one of them had a family history of syncope. The mean QTc interval was (515±17) ms, similar to those with single mutation or SNPs ((536±74) ms, P=0.63). Compared to those LQTS patients with single mutation or SNPs, a significantly higher percentage of LQTS patients with bigenic mutations presented with seizure and were younger at onset of the first index event (P=0.03 and 0.001, respectively), but lower percentage of them presented with sudden cardiac death (P=0.03). Conclusions Although the percentage of bigenic mutations in LQTS is less than 10% in Caucasian populations, we identified 3 of 16 LQTS patients (18.7%, 95% confidence interval: 0.04-0.46) with bigenic mutations in Taiwan. However, the severity of their clinical presentations was not higher than those patients with single mutation or SNPs.

Intermittent brugada syndrome presenting with syncope in an adult female.

Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of <1 mm in V1 and V2, and flattening of T waves in V1. The angiogram did not demonstrate obstructive coronary disease. The electrocardiogram obtained two days after these events showed a right bundle branch block with ST-segment elevation of >2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

Arterial hypertension as independent variable of high risk patients with syncope

Purpose: Recently several stratification scores were proposed to identify high-risk patients with syncope who need further observation and admission at hospital. But we still need the improvement of the management in syncopal population. The most simple risk score is The Osservatorio Epidemiologico sulla Sincope nel Lazio (OESIL). Overall mortality at one year follow-up correlates with the OESIL score and the risk is high when the OESIL score is 2 points or more. The aim was to identify factors associated with high risk OESIL patients with syncope referred to the cardiac ward. Methods: We performed a single-centre prospective study of 991 consecutive patients with syncope, referred to the department of cardiology between 2002 and 2011. Study measures included demographic data, history of syncopal events, data of concomitant injures and diseases, family history of syncope, 12-lead resting ECG and blood pressure measurements. The OESIL score was calculated for every single patient as already described, by assigning a value 1 when an independent predictor of mortality was present such as age more than 65 years, cardiovascular disease in the clinical history, syncope without prodrome and abnormal ECG. Patients were classified for low risk (OESIL score 0-1 point) or high risk (OESIL score 2-4 points) and analyzed with regard to OESIL score ≥2 vs <2 for total population and after excluding patients in age of more than 65 years (one of items building OESIL score) and regard to mortality in one year follow-up. Results: The OESIL score ≥2 had 193 patients (19.3%) and 31 patients (3.1%) died in one year follow-up. Multivariate analysis for total population revealed independent variables associated with OESIL score ≥2: arterial hypertension (OR 35.19; 95% CI 14.65–84.55) and BMI (OR 3.23; 95% CI 2.31–4.51), and for patients aged <65 years only arterial hypertension (OR 17.18; 95% CI 6.8–43.42). Arterial hypertension was also significantly associated with risk profile of the studied patients, with every item from four general OESIL variables. From multivariate analysis arterial hypertension and age were independent variables for death (respectively OR 2.71; 95% CI 1.18-6.23 and OR 1.04; 95% CI 1.01-1.07). Conclusion: The OESIL score extended of arterial hypertension seems to help in identifying high risk individuals with syncope who should be carefully observed in the cardiac ward.

Syncope and intermittent Brugada ECG pattern

Brugada syndrome is a rare syndrome, with an estimated prevalence in Europe of 1–5/10000 population, whose initial clinical presentation can be sudden death. Although it has a characteristic electrocardiographic pattern, this can be intermittent. The authors present the case of a 32-year-old man, with no family history of syncope or sudden death, who went to the emergency department for syncope without prodromes. The initial electrocardiogram (ECG) in sinus rhythm documented an isolated and non-specific ST-segment elevation in V2. During further diagnostic studies, a repeat ECG revealed type 1 Brugada pattern. This pattern was later seen in a more marked form during a respiratory infection. The patient subsequently underwent electrophysiological study, followed by implantation of an implantable cardioverter-defibrillator (ICD), with an episode of ventricular fibrillation converted via ICD shock two months after implantation.

Síncope e padrão de Brugada intermitente

Brugada syndrome is a rare syndrome, with an estimated prevalence in Europe of 1-5/10 000 population, whose initial clinical presentation can be sudden death. Although it has a characteristic electrocardiographic pattern, this can be intermittent. The authors present the case of a 32-year-old man, with no family history of syncope or sudden death, who went to the emergency department for syncope without prodromes. The initial electrocardiogram (ECG) in sinus rhythm documented an isolated and non-specific ST-segment elevation in V2. During further diagnostic studies, a repeat ECG revealed type 1 Brugada pattern. This pattern was later seen in a more marked form during a respiratory infection. The patient subsequently underwent electrophysiological study, followed by implantation of an implantable cardioverter-defibrillator (ICD), with an episode of ventricular fibrillation converted via ICD shock two months after implantation.

Autosomal dominant vasovagal syncope

To establish the occurrence of an autosomal dominant form of vasovagal syncope (VVS) by detailed phenotyping of multiplex families and identification of the causative locus. Patients with VVS and a family history of syncope were recruited. A standardized questionnaire was administered to all available family members and medical records were reviewed. Of 44 families recruited, 6 were suggestive of autosomal dominant inheritance. Genome-wide linkage was performed in family A using single nucleotide polymorphism genotyping microarrays. Targeted analysis of chromosome 15q26 with microsatellite markers was implemented in 4 families; 1 family was too small for analysis. Family A contained 30 affected individuals over 3 generations with a median onset of 8 to 9 years. The other families comprised 4 to 14 affected individuals. Affected individuals reported typical triggers of VVS (sight of blood, injury, medical procedures, prolonged standing, pain, frightening thoughts). The triggers varied considerably within the families. Significant linkage to chromosome 15q26 (logarithm of odds score 3.28) was found in family A. Linkage to this region was excluded in 2 medium-sized families but not in 2 smaller families. Sequence analysis of the candidate genes SLCO3A1, ST8SIA2, and NR2F2 within the linkage interval did not reveal any mutations. Familial VVS, inherited in an autosomal dominant manner, may not be rare and has similar features to sporadic VVS. The chromosome 15q26 locus in family A increases the susceptibility to VVS but does not predispose to a particular vasovagal trigger. Linkage analysis in the remaining families established likely genetic heterogeneity.