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International Journal of Molecular... Jun 2024The aim of the Special Issue "Molecular study of sudden cardiac death" was to gather new studies on the molecular biology of cardiac death, from both a fundamental and...
The aim of the Special Issue "Molecular study of sudden cardiac death" was to gather new studies on the molecular biology of cardiac death, from both a fundamental and clinical perspective [...].
Topics: Humans; Death, Sudden, Cardiac
PubMed: 38928072
DOI: 10.3390/ijms25126366 -
Biomedicines Jun 2024Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator...
Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ventricular arrhythmia (MVA) of ≥10%. The risk prediction score for MVA includes non-missense LMNA mutations, despite their role as an established risk factor for sudden cardiac death (SCD) has been questioned in several studies. The purpose of this study is to investigate cardiac features and find gene-phenotype correlations that would contribute to the evidence on the prognostic implications of non-missense vs. missense mutations in a cohort of LMNA mutant patients. An observational, prospective study was conducted in which 54 patients positive for a Lamin A/C mutation were enrolled, and 20 probands (37%) were included. The median age at first clinical manifestation was 41 (IQR 19) years. The median follow-up was 8 years (IQR 8). The type of gene mutation was distributed as follows: missense in 26 patients (48%), non-frameshift insertions in 16 (30%), frameshift deletions in 5 (9%), and nonsense in 7 (13%). Among the missense mutation carriers, two (8%) died and four (15%) were admitted onto the heart transplant list or underwent transplantation, with a major adverse cardiovascular event (MACE) rate of 35%. No statistically significant differences in MACE prevalence were identified according to the missense and non-missense mutation groups ( value = 0.847). Our data shift the spotlight on this considerable topic and could suggest that some missense mutations may deserve attention regarding SCD risk stratification in real-world clinical settings.
PubMed: 38927500
DOI: 10.3390/biomedicines12061293 -
Biomedicines May 2024The role of the immune system in myocarditis onset and progression involves a range of complex cellular and molecular pathways. Both innate and adaptive immunity... (Review)
Review
The role of the immune system in myocarditis onset and progression involves a range of complex cellular and molecular pathways. Both innate and adaptive immunity contribute to myocarditis pathogenesis, regardless of its infectious or non-infectious nature and across different histological and clinical subtypes. The heterogeneity of myocarditis etiologies and molecular effectors is one of the determinants of its clinical variability, manifesting as a spectrum of disease phenotype and progression. This spectrum ranges from a fulminant presentation with spontaneous recovery to a slowly progressing, refractory heart failure with ventricular dysfunction, to arrhythmic storm and sudden cardiac death. In this review, we first examine the updated definition and classification of myocarditis at clinical, biomolecular and histopathological levels. We then discuss recent insights on the role of specific immune cell populations in myocarditis pathogenesis, with particular emphasis on established or potential therapeutic applications. Besides the well-known immunosuppressive agents, whose efficacy has been already demonstrated in human clinical trials, we discuss the immunomodulatory effects of other drugs commonly used in clinical practice for myocarditis management. The immunological complexity of myocarditis, while presenting a challenge to simplistic understanding, also represents an opportunity for the development of different therapeutic approaches with promising results.
PubMed: 38927363
DOI: 10.3390/biomedicines12061156 -
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 -
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 -
Cureus May 2024Atrial myxomas are benign primary cardiac tumors. They can present with nonspecific symptoms, ranging from constitutional symptoms and embolic phenomena such as...
Atrial myxomas are benign primary cardiac tumors. They can present with nonspecific symptoms, ranging from constitutional symptoms and embolic phenomena such as transient ischemic attacks (TIAs) or strokes to sudden cardiac death. Early diagnosis may be a challenge due to the nonspecific presentation of atrial myxoma. A high degree of suspicion is needed in patients with TIA having no known cardiovascular risk factors. Although benign, if left untreated, it can lead to serious complications ranging from embolic phenomena and obstructive symptoms to sudden cardiac death. An echocardiogram is of fundamental importance in diagnosing atrial myxoma, and surgical resection is the ultimate treatment of choice. Here, we discuss a case of TIA as the initial presentation of atrial myxoma.
PubMed: 38919224
DOI: 10.7759/cureus.61082 -
Cureus May 2024Atypical aortic origin of coronary artery (AAOCA) is a rare heart condition that has been identified in only a few autopsy cases and in some patients who have undergone...
Atypical aortic origin of coronary artery (AAOCA) is a rare heart condition that has been identified in only a few autopsy cases and in some patients who have undergone angiographic evaluation. AAOCA is known to be closely linked with aortic valve malformations, with the most common type being the bicuspid aortic valve (BAV). A 77-year-old male with a medical history of hypertension and diabetes presented with dyspnea and orthopnea for three days. During the eventual cardiac catheterization, it was noted that the left coronary artery had an anomalous origin from the right side, coursing between the aorta and pulmonary artery. Contrast-enhanced computerized tomography (CECT) also showed a type 2 BAV and a left main coronary artery arising lower at the level of the pulmonary trunk. The dyspnea in this patient was attributed to diastolic dysfunction, and surgical correction of the coronaries was not done. The patient was managed on an outpatient basis for heart failure. In this case, the patient had an anomalous origin of the left coronary artery and type 2 BAV, which posed significant cardiovascular complications. It is unclear if the presence of the concomitant type 2 BAV led to the origin of the anomalous left coronary artery being at a lower level through its effect on the developmental mechanics. This lower origin may have resulted in lower compressive forces on the coronary artery as the inter-arterial pressures would be lower closer to the heart and farther from the lungs. Our case report aims to highlight this complex presentation where the BAV likely provides a benefit in AAOCA cases.
PubMed: 38919205
DOI: 10.7759/cureus.61136