-
Journal of Genetic Counseling Jun 2024Long QT syndrome (LQTS), a rare cardiac condition that can lead to sudden death, is highly prevalent in First Nations communities of northern British Columbia. In the...
Long QT syndrome (LQTS), a rare cardiac condition that can lead to sudden death, is highly prevalent in First Nations communities of northern British Columbia. In the Gitxsan community of 5500, an estimated 1 in 125 individuals are affected, primarily due to the novel pathogenic variant p.V205M in KCNQ1. Over the past decade, more than 800 Gitxsan individuals received genetic testing and counseling for LQTS through a community-based study. Despite the substantial research characterizing the biological underpinnings of LQTS, there are few studies exploring the lived experiences of families with LQTS, especially those of Indigenous peoples. The goal of this study was to gain a greater understanding of the impact of the genetic confirmation of LQTS in this community, and the impact the condition has on individuals, their families, and the community. A qualitative study was developed in consultation with a local research advisory board and a Talking Circle, a traditional Indigenous format for discussion, was held. Four people who belonged to the same kindred group attended the Talking Circle. This article presents the multigenerational impact that LQTS and genetic diagnosis have through the reflections of one Gitxsan family. LQTS affects identity and family relationships, including those between parents and children, siblings, and even extended family members. Laughter and humor played an important part in coping. The role of family relationships for this Gitxsan family was seen to be critical in managing an LQTS diagnosis. This multigenerational perspective provides key insights into family structure and dynamics which can inform genetic counseling and clinical care. As cultural safety is experienced and therefore defined by the person receiving services, listening to the perspectives and preferences of Indigenous peoples is essential to the delivery of culturally informed care.
PubMed: 38926912
DOI: 10.1002/jgc4.1927 -
Cardiovascular Diabetology Jun 2024The incidence of myocardial infarction (MI) and sudden cardiac death (SCD) is significantly higher in individuals with Type 2 Diabetes Mellitus (T2DM) than in the...
BACKGROUND
The incidence of myocardial infarction (MI) and sudden cardiac death (SCD) is significantly higher in individuals with Type 2 Diabetes Mellitus (T2DM) than in the general population. Strategies for the prevention of fatal arrhythmias are often insufficient, highlighting the need for additional non-invasive diagnostic tools. The T-wave heterogeneity (TWH) index measures variations in ventricular repolarization and has emerged as a promising predictor for severe ventricular arrhythmias. Although the EMPA-REG trial reported reduced cardiovascular mortality with empagliflozin, the underlying mechanisms remain unclear. This study investigates the potential of empagliflozin in mitigating cardiac electrical instability in patients with T2DM and coronary heart disease (CHD) by examining changes in TWH.
METHODS
Participants were adult outpatients with T2DM and CHD who exhibited TWH > 80 µV at baseline. They received a 25 mg daily dose of empagliflozin and were evaluated clinically including electrocardiogram (ECG) measurements at baseline and after 4 weeks. TWH was computed from leads V4, V5, and V6 using a validated technique. The primary study outcome was a significant (p < 0.05) change in TWH following empagliflozin administration.
RESULTS
An initial review of 6,000 medical records pinpointed 800 patients for TWH evaluation. Of these, 412 exhibited TWH above 80 µV, with 97 completing clinical assessments and 90 meeting the criteria for high cardiovascular risk enrollment. Empagliflozin adherence exceeded 80%, resulting in notable reductions in blood pressure without affecting heart rate. Side effects were generally mild, with 13.3% experiencing Level 1 hypoglycemia, alongside infrequent urinary and genital infections. The treatment consistently reduced mean TWH from 116 to 103 µV (p = 0.01).
CONCLUSIONS
The EMPATHY-HEART trial preliminarily suggests that empagliflozin decreases heterogeneity in ventricular repolarization among patients with T2DM and CHD. This reduction in TWH may provide insight into the mechanism behind the decreased cardiovascular mortality observed in previous trials, potentially offering a therapeutic pathway to mitigate the risk of severe arrhythmias in this population.
TRIAL REGISTRATION
NCT: 04117763.
Topics: Humans; Benzhydryl Compounds; Glucosides; Male; Female; Middle Aged; Sodium-Glucose Transporter 2 Inhibitors; Aged; Diabetes Mellitus, Type 2; Treatment Outcome; Time Factors; Action Potentials; Arrhythmias, Cardiac; Heart Rate; Coronary Disease; Electrocardiography; Risk Factors
PubMed: 38926835
DOI: 10.1186/s12933-024-02311-1 -
Current Problems in Cardiology Jun 2024Sports medical examinations are a tool to detect potentially life-threatening situations during physical activity, but their usefulness and protocols in young athletes... (Review)
Review
BACKGROUND
Sports medical examinations are a tool to detect potentially life-threatening situations during physical activity, but their usefulness and protocols in young athletes remain controversial. The aim was to describe the diagnostic performance of a 2-step ECG and echocardiogram screening model in a large sample of healthy young-adolescent athletes (aged 11-16 years), evaluating its cost-effectiveness for cardiovascular disease (CVD) detection.
METHODS
Cross-sectional study of 2617 individuals (81% male, mean age 15 years), over 20 federated sports (La Rioja-Spain). A cardiological examination included family and personal history, physical examination, ECG, and transthoracic echocardiogram. The previous ECG, conducted at 11-13 years old, was reviewed in 1589 individuals (60%). ECGs were interpreted according to 2017 international criteria. The prevalence of structural cardiac disease (CD) was investigated, and the diagnostic performance of both tests and the cost of screening was evaluated.
RESULTS
CVD was diagnosed in 63 athletes (2.4%) and 16 (0.6%) with pathology related to sudden cardiac death (SCD). In 3 cases (0.11%), cessation of sporting activity was indicated, and in 2 cases (0.07%), treatment for congenital CD was indicated. ECG alterations were infrequent (2.5%). Eighty percent of the structural CD diagnosed by echocardiogram had a normal ECG. The cost per CVD detected was €3,080, and for CVD associated with SCD, it was €12,323.
CONCLUSIONS
Our study shows the diagnostic cost-effectiveness of a two-step cardiac screening protocol, including ECG, and highlights the role of echocardiography in young adolescent athletes, which could be implemented at a low and reasonable cost.
PubMed: 38925205
DOI: 10.1016/j.cpcardiol.2024.102724 -
Journal of Cardiovascular... Jun 2024The dST-Tiso is a newly proposed electrocardiographic (ECG) marker during Brugada (BrS) type I pattern, that predicts the likelihood of ventricular arrhythmia (VA)...
INTRODUCTION
The dST-Tiso is a newly proposed electrocardiographic (ECG) marker during Brugada (BrS) type I pattern, that predicts the likelihood of ventricular arrhythmia (VA) inducibility in patients with ajmaline-induced pattern. The objective of this study was to validate the effectiveness of this criterion using an independent data set.
METHODS
Consecutive patients exhibiting a BrS type I ECG pattern following ajmaline administration underwent programmed ventricular stimulation (PVS). dST-Tiso interval was measured in all patients and tested as a predictor for positive VA inducibility.
RESULTS
Among 128 patients (median age 43 years, 59% male) with drug-induced BrS type I ECG pattern who underwent PVS, 32 (25.0%) had VA inducibility that required defibrillation. Compared to noninducible subjects, those with positive PVS were more commonly male (81% vs. 51%, p = 0.003), had longer PQ (165 vs. 160 ms, p = 0.016) and dST-Tiso (310 vs. 230 ms, p < 0.001) intervals, and shorter QT interval (412 vs. 420 ms, p = 0.022). When treated as a continuous variable, dST-Tiso confirmed significant association with VA inducibility, with an adjusted odds ratio of 1.02 (95% confidence interval: 1.01-1.03, p < 0.001) for each 1 ms increase in duration. A dST-Tiso interval >300 ms yielded a sensitivity of 75%, a specificity of 86%, and positive and negative predictive values of 69% and 91%, respectively.
CONCLUSION
The validation of the model based on the dST-Tiso interval >300 ms confirmed its high accuracy in predicting VA inducibility in drug-induced BrS type I pattern. This straightforward ECG marker might be linked to the extent of the electrical substrate of the disease.
PubMed: 38923783
DOI: 10.1111/jce.16348 -
European Heart Journal Jun 2024Cardiac sarcoidosis (CS) is a form of inflammatory cardiomyopathy associated with significant clinical complications such as high-degree atrioventricular block,...
Cardiac sarcoidosis (CS) is a form of inflammatory cardiomyopathy associated with significant clinical complications such as high-degree atrioventricular block, ventricular tachycardia, and heart failure as well as sudden cardiac death. It is therefore important to provide an expert consensus statement summarizing the role of different available diagnostic tools and emphasizing the importance of a multidisciplinary approach. By integrating clinical information and the results of diagnostic tests, an accurate, validated, and timely diagnosis can be made, while alternative diagnoses can be reasonably excluded. This clinical expert consensus statement reviews the evidence on the management of different CS manifestations and provides advice to practicing clinicians in the field on the role of immunosuppression and the treatment of cardiac complications based on limited published data and the experience of international CS experts. The monitoring and risk stratification of patients with CS is also covered, while controversies and future research needs are explored.
PubMed: 38923509
DOI: 10.1093/eurheartj/ehae356 -
Journal of Cardiovascular Pharmacology May 2024Hydroxychloroquine (HCQ) and chloroquine (CQ) are foundational treatments for several systemic autoimmune rheumatic diseases, including systemic lupus erythematosus...
Hydroxychloroquine and Chloroquine-Induced Cardiac Arrhythmias and Sudden Cardiac Death in Patients with Systemic Autoimmune Rheumatic Diseases: A Systematic Review and Meta-Analysis.
Hydroxychloroquine (HCQ) and chloroquine (CQ) are foundational treatments for several systemic autoimmune rheumatic diseases, including systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Concerns regarding the risk of cardiac arrhythmia and death have been raised, yet the burden of HCQ and CQ-related cardiac toxicities remains unclear. A systematic literature search was conducted in the MEDLINE and Embase databases for articles published between the earliest date and April 2023 reporting cardiac conduction abnormalities in patients with systemic autoimmune rheumatic diseases taking HCQ or CQ. Meta-analysis was performed to calculate the difference in mean QTc and odds ratio of prolonged QTc in those taking HCQ or CQ versus not. Of 2673 unique records, 34 met the inclusion criteria, including 70,609 subjects. Thirty-three studies reported outcomes in HCQ and 9 in CQ. Five studies reported outcomes in RA, 11 in SLE, and 18 in populations with mixed rheumatic diseases. Eleven studies reported mean QTc and OR for prolonged QTc for meta-analysis, all reporting outcomes in HCQ. There was a significant increase in mean QTc among HCQ users in patients with RA (10.29 ms, p = 0.458). There was no difference in mean QTc between HCQ and non-HCQ users in other systemic autoimmune rheumatic diseases. When rheumatic diseases were pooled, HCQ users were more likely to have prolonged QTc (odds ratio 1.57, 95%CI: 1.19, 2.08). QTc prolongation was more likely in patients with systemic autoimmune rheumatic diseases. Clinicians should be aware of potential adverse cardiac events of HCQ and consider QTc monitoring.
PubMed: 38922589
DOI: 10.1097/FJC.0000000000001589 -
Sports (Basel, Switzerland) May 2024Artificial Intelligence (AI) is redefining electrocardiogram (ECG) analysis in pre-participation examination (PPE) of athletes, enhancing the detection and monitoring of... (Review)
Review
Artificial Intelligence (AI) is redefining electrocardiogram (ECG) analysis in pre-participation examination (PPE) of athletes, enhancing the detection and monitoring of cardiovascular health. Cardiovascular concerns, including sudden cardiac death, pose significant risks during sports activities. Traditional ECG, essential yet limited, often fails to distinguish between benign cardiac adaptations and serious conditions. This narrative review investigates the application of machine learning (ML) and deep learning (DL) in ECG interpretation, aiming to improve the detection of arrhythmias, channelopathies, and hypertrophic cardiomyopathies. A literature review over the past decade, sourcing from PubMed and Google Scholar, highlights the growing adoption of AI in sports medicine for its precision and predictive capabilities. AI algorithms excel at identifying complex cardiac patterns, potentially overlooked by traditional methods, and are increasingly integrated into wearable technologies for continuous monitoring. Overall, by offering a comprehensive overview of current innovations and outlining future advancements, this review supports sports medicine professionals in merging traditional screening methods with state-of-the-art AI technologies. This approach aims to enhance diagnostic accuracy and efficiency in athlete care, promoting early detection and more effective monitoring through AI-enhanced ECG analysis within athlete PPEs.
PubMed: 38921838
DOI: 10.3390/sports12060144 -
Journal of Cardiovascular Development... May 2024Arrhythmogenic right ventricular cardiomyopathy (ARVC) can lead to sudden cardiac death and life-threatening heart failure. Due to its high fatality rate and limited...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) can lead to sudden cardiac death and life-threatening heart failure. Due to its high fatality rate and limited therapies, the pathogenesis and diagnosis biomarker of ARVC needs to be explored urgently. This study aimed to explore the lncRNA-miRNA-mRNA competitive endogenous RNA (ceRNA) network in ARVC. The mRNA and lncRNA expression datasets obtained from the Gene Expression Omnibus (GEO) database were used to analyze differentially expressed mRNA (DEM) and lncRNA (DElnc) between ARVC and non-failing controls. Differentially expressed miRNAs (DEmiRs) were obtained from the previous profiling work. Using starBase to predict targets of DEmiRs and intersecting with DEM and DElnc, a ceRNA network of lncRNA-miRNA-mRNA was constructed. The DEM and DElnc were validated by real-time quantitative PCR in human heart tissue. Protein-protein interaction network and weighted gene co-expression network analyses were used to identify hub genes. A logistic regression model for ARVC diagnostic prediction was established with the hub genes and their ceRNA pairs in the network. A total of 448 DEMs (282 upregulated and 166 downregulated) were identified, mainly enriched in extracellular matrix and fibrosis-related GO terms and KEGG pathways, such as extracellular matrix organization and collagen fibril organization. Four mRNAs and two lncRNAs, including , , , , , and identified through the ceRNA network, were validated by real-time quantitative PCR in human heart tissue and used to construct a logistic regression model. Good ARVC diagnostic prediction performance for the model was shown in both the training set and the validation set. The potential lncRNA-miRNA-mRNA regulatory network and logistic regression model established in our study may provide promising diagnostic methods for ARVC.
PubMed: 38921668
DOI: 10.3390/jcdd11060168 -
Journal of Functional Morphology and... Jun 2024The fire service suffers from high rates of cardiovascular disease and poor overall health, and firefighters often suffer fatal and non-fatal injuries while on the job.... (Review)
Review
The fire service suffers from high rates of cardiovascular disease and poor overall health, and firefighters often suffer fatal and non-fatal injuries while on the job. Most fatal injuries result from sudden cardiac death, while non-fatal injuries are to the musculoskeletal system. Previous works suggest a mechanistic link between several health and performance variables and injury risk. In addition, studies have suggested physical activity and nutrition can improve overall health and occupational performance. This review offers practical applications for exercise via feasible training modalities as well as nutritional recommendations that can positively impact performance on the job. Time-efficient training modalities like high-intensity interval training and feasible modalities such as resistance training offer numerous benefits for firefighters. Also, modifying and supplementing the diet and can be advantageous for health and body composition in the fire service. Firefighters have various schedules, making it difficult for planned exercise and eating while on shift. The practical training and nutritional aspects discussed in this review can be implemented on-shift to improve the overall health and performance in firefighters.
PubMed: 38921641
DOI: 10.3390/jfmk9020105 -
Clinics and Practice May 2024(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough...
(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for a prolonged QTc interval, a marker for Long QT Syndrome (LQTS), should be conducted on all newborns to reduce the incidence of SIDS. Neonatal electrocardiograms (ECGs) could identify congenital heart defects (CHDs) early, especially those not detected at birth. Infants with prolonged QTc intervals typically undergo genetic analysis for Long QT Syndrome. (2) Methods: The study involved infants aged 20-40 days, born with no apparent clinical signs of heart disease, with initial ECG screening. Infants with prenatal diagnoses or signs/symptoms of CHDs identified immediately after birth, as well as infants who had previously had an ECG or echocardiogram for other medical reasons, were excluded from the study. We used statistical software (SPSS version 22.0) to analyze the data. (3) Results: Of the 42,200 infants involved, 2245 were enrolled, with 39.9% being males. Following this initial screening, 164 children (37.8% males) with prolonged QTc intervals underwent further evaluation. Out of these 164 children, 27 children were confirmed to have LQTS. However, only 18 children were finally investigated for genetic mutations, and mutations were identified in 11 tests. The most common mutations were (54.5%), (36.4%), and (1 patient). Treatment options included propranolol (39.8%), nadolol (22.2%), inderal (11.1%), metoprolol (11.1%), and no treatment (16.7%). The most common abnormalities were focal right bundle branch block (54.5%), left axis deviation (9.2%), and nonspecific ventricular repolarization abnormalities (7.1%). Multiple anomalies were found in 0.47% of children with focal right bundle branch block. Structural abnormalities were associated with specific features in 267 patients (11.9%), primarily isolated patent foramen ovale (PFO) at 61.4%. (4) Conclusions: This screening approach has demonstrated effectiveness in the early identification of LQTS and other cardiac rhythm anomalies, with additional identification of mutations and/or prolonged QTc intervals in family members. Identifying other ECG abnormalities and congenital heart malformations further enhances the benefits of the screening.
PubMed: 38921260
DOI: 10.3390/clinpract14030082