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MedRxiv : the Preprint Server For... Mar 2024Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia caused by mutations in the ryanodine receptor type 2 (RyR2). Diagnosis of...
Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.
BACKGROUND
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia caused by mutations in the ryanodine receptor type 2 (RyR2). Diagnosis of CPVT often occurs after a major cardiac event, thus posing a severe threat to the patient's health.
METHODS
Publication databases, including PubMed, Scopus, and Embase, were searched for articles on patients with RyR2-CPVT mutations and their associated clinical presentation. Articles were reviewed by two independent reviewers and mutations were analyzed for demographic information, mutation distribution, and therapeutics. The human RyR2 cryo-EM structure was used to model CPVT mutations and predict the diagnosis and outcomes of CPVT patients.
FINDINGS
We present a database of 1008 CPVT patients from 227 papers. Data analyses revealed that patients most often experienced exercise-induced syncope in their early teenage years but the diagnosis of CPVT took a decade. Mutations located near key regulatory sites in the channel were associated with earlier onset of CPVT symptoms including sudden cardiac death.
INTERPRETATION
The present study provides a road map for predicting clinical outcomes based on the location of RyR2 mutations in CPVT patients. The study was partially limited by the inconsistency in the depth of information provided in each article, but nevertheless is an important contribution to the understanding of the clinical and molecular basis of CPVT and suggests the need for early diagnosis and creative approaches to disease management.
FUNDING
The work was supported by grant NIH R01HL145473, P01 HL164319 R25HL156002, T32 HL120826.
PubMed: 38559077
DOI: 10.1101/2024.03.15.24304349 -
Clinical Lung Cancer Jun 2024A systematic literature review was conducted to determine the incidence and mortality of QT-interval prolongation (QTp), torsades de pointes (TdP), and heart failure... (Review)
Review
A systematic literature review was conducted to determine the incidence and mortality of QT-interval prolongation (QTp), torsades de pointes (TdP), and heart failure (HF) in patients with non-small cell lung cancer (NSCLC) who received epidermal growth factor receptor (EGFR) TKIs. Of 296 identified publications, 95 met eligibility criteria and were abstracted for QTp/TdP and HF outcomes (QTp/TdP: 83 publications, including 5 case study publications; HF: 79 publications, including 6 case study publications [involving 8 patients]). QTp incidence ranged from 0% to 27.8% in observational studies and from 0% to 11% in clinical trials, with no deaths due to QTp. There were no TdP events or deaths due to TdP. The incidence of HF ranged from 0% to 8%, and HF mortality rates ranged from 0% to 4%. Patients receiving treatment with EGFR TKIs should be monitored for signs of QTp, TdP, and HF per prescribing information. Standardized definitions and methods to improve monitoring of QTp, TdP, and HF-related events are needed in patients with NSCLC.
Topics: Humans; Carcinoma, Non-Small-Cell Lung; Heart Failure; Lung Neoplasms; ErbB Receptors; Torsades de Pointes; Protein Kinase Inhibitors; Long QT Syndrome; Incidence; Tyrosine Kinase Inhibitors
PubMed: 38553324
DOI: 10.1016/j.cllc.2024.02.005 -
International Journal of Cardiology.... Apr 2024
Critical appraisal of "Goetz G, Wernly B, Wild C (2023) Wearable cardioverter defibrillator for preventing sudden cardiac death in patients at risk: An updated systematic review of comparative effectiveness and safety. IJC Heart & Vasculature 45 (2023) 101189". Comment to the authors reply.
PubMed: 38550274
DOI: 10.1016/j.ijcha.2024.101390 -
Medicina (Kaunas, Lithuania) Feb 2024: Sudden cardiac death (SCD) represents a challenge to health systems globally and is met with increased frequency in the population. Over time, multiple screening... (Review)
Review
: Sudden cardiac death (SCD) represents a challenge to health systems globally and is met with increased frequency in the population. Over time, multiple screening methods have been proposed, including the analysis of various plasma biomarkers. This article aims to analyze for illustrative purposes the specialized literature in terms of current biomarkers and testing trends, in the case of cardiovascular diseases and implicitly sudden cardiac death. : In this regard, we searched the PubMed database from 2010 to the present time using the keywords "sudden cardiac death" and "biomarkers". The inclusion criteria were clinical trials that analyzed the effectiveness of screening methods in terms of biomarkers used in stratifying the risk of cardiac distress and/or sudden cardiac death. We excluded reviews, meta-analyses, and studies looking at the effectiveness of treatments. : An extended approach was found, through studies that brought to the forefront both classical markers analyzed by new, more performant methods, markers for other pathologies that also determined cardiovascular impact, non-specific molecules with effects on the cardiovascular system, and state-of-the-art markers, such as microRNA. Some molecules were analyzed simultaneously in certain groups of patients. : The observed current trend revealed the tendency to define the clinical-biological particularities of the person to be screened.
Topics: Humans; Death, Sudden, Cardiac; Biomarkers
PubMed: 38541144
DOI: 10.3390/medicina60030418 -
International Journal of Molecular... Feb 2024Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular... (Review)
Review
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased's family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease.
Topics: Humans; Arrhythmogenic Right Ventricular Dysplasia; Autopsy; Myocardium; Databases, Factual; Death, Sudden, Cardiac
PubMed: 38473714
DOI: 10.3390/ijms25052467 -
Systematic Reviews Mar 2024Sudden cardiac death (SCD) is a rare and yet unexplained condition. The most frequent cause is myocardial infarction, while a small proportion is due to arrhythmogenic... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Sudden cardiac death (SCD) is a rare and yet unexplained condition. The most frequent cause is myocardial infarction, while a small proportion is due to arrhythmogenic syndromes (e.g., channelopathies). This systematic review and meta-analysis aimed to provide a comprehensive overview of the prevalence and risk factors associated with SCD in workers.
MATERIAL AND METHODS
A search for eligible studies was performed utilizing three databases (PubMed, ISI Web of Knowledge, and Scopus). The inclusion criteria were fulfilled if sudden cardiac death due to channelopathy in workers was mentioned.
RESULTS
Out of the 1408 articles found across three databases, 6 articles were included in the systematic review but the meta-analysis was conducted on 3 studies The total sample included was 23,450 participants. The pooled prevalence of channelopathies in employees was 0.3% (95% CI 0.07-0.43%), of sudden cardiac death in employees was 2.8% (95% CI 0.37-5.20%), and of sudden cardiac death in employees with a diagnosis of cardiac channelopathies was 0.2% (95% CI 0.02- 0.30%).
CONCLUSIONS
SCD is a serious and potentially preventable condition that can occur among workers. By identifying and addressing work-related risk factors, providing appropriate screening and interventions, and promoting healthy lifestyle behaviors, we can work to reduce the incidence of SCD and improve the cardiovascular health and well-being of workers.
Topics: Humans; Channelopathies; Death, Sudden, Cardiac; Risk Factors; Myocardial Infarction; Incidence
PubMed: 38461297
DOI: 10.1186/s13643-024-02504-5 -
Pharmacology Research & Perspectives Apr 2024Diabetic cardiomyopathy (DCM) is a condition characterized by myocardial dysfunction that occurs in individuals with diabetes, in the absence of coronary artery disease,... (Review)
Review
Diabetic cardiomyopathy (DCM) is a condition characterized by myocardial dysfunction that occurs in individuals with diabetes, in the absence of coronary artery disease, valve disease, and other conventional cardiovascular risk factors such as hypertension and dyslipidemia. It is considered a significant and consequential complication of diabetes in the field of cardiovascular medicine. The primary pathological manifestations include myocardial hypertrophy, myocardial fibrosis, and impaired ventricular function, which can lead to widespread myocardial necrosis. Ultimately, this can progress to the development of heart failure, arrhythmias, and cardiogenic shock, with severe cases even resulting in sudden cardiac death. Despite several decades of both fundamental and clinical research conducted globally, there are currently no specific targeted therapies available for DCM in clinical practice, and the incidence and mortality rates of heart failure remain persistently high. Thus, this article provides an overview of the current treatment modalities and novel techniques pertaining to DCM, aiming to offer valuable insights and support to researchers dedicated to investigating this complex condition.
Topics: Humans; Diabetic Cardiomyopathies; Heart Failure; Coronary Artery Disease; Myocardial Infarction; Cardiovascular Agents; Diabetes Mellitus
PubMed: 38407563
DOI: 10.1002/prp2.1177 -
Health Science Reports Feb 2024Fragmented QRS (fQRS), which is associated with rhythm disturbances, can predispose the heart to fatal ventricular arrhythmias. Recently, accumulating studies indicates...
BACKGROUND AND AIMS
Fragmented QRS (fQRS), which is associated with rhythm disturbances, can predispose the heart to fatal ventricular arrhythmias. Recently, accumulating studies indicates that fQRS is associated with poor prognosis in various types of cardiomyopathies. Therefore, we assessed the association between fQRS with all-cause mortality and major arrhythmic events (MAEs) in patients with nonischemic cardiomyopathy, in this systematic review and meta-analysis study.
METHODS
We performed a comprehensive search in databases of PubMed/Medline, EMBASE, and Web of Science from the beginning to December 31, 2022. Published observational studies (cohorts, case-control, or analytical cross-sectional studies) were included that report the prognostic value of fQRS in patients with different types of nonischemic cardiomyopathies for MAEs (sudden cardiac death, sudden cardiac arrest, sustained ventricular tachycardia [VT], ventricular fibrillation [VF], and appropriate shock) and all-cause mortality. We pooled risk ratios (RRs) through raw data and adjusted hazard ratios (aHRs) using "Comprehensive Meta-Analysis" software, Version 2.0.
RESULTS
Nineteen cohort and three analytical cross-sectional studies were included in this meta-analysis involving a total of 4318 subjects with nonischemic cardiomyopathy (1279 with fQRS and 3039 without fQRS). FQRS was significantly associated with an increased risk of all-cause mortality in patients with nonischemic cardiomyopathy (pooled RR: 1.920; 95% confidence interval [CI]: 1.388-2.656, < 0.0001/pooled HR: 1.729; 95% CI: 1.327-2.251, < 0.0001). Also, the risk of developing MAEs in the presence of fQRS was significantly increased (pooled RR: 2.041; 95% CI: 1.644-2.533, < 0.0001/pooled HR: 3.626; 95% CI: 2.119-6.204, < 0.0001). In the subgroup analysis, the strongest association between fQRS presence and increased MAEs was observed in patients with hypertrophic cardiomyopathy (HCM) (pooled RR: 3.44; 95% CI: 2.07-5.71, < 0.0001/pooled HR: 3.21; 95% CI: 2.04-5.06, < 0.0001).
CONCLUSION
Fragmented QRS could be a prognostic marker for all-cause mortality and MAEs in patients with various types of nonischemic cardiomyopathies, particularly HCM.
PubMed: 38357482
DOI: 10.1002/hsr2.1888 -
MHealth 2024This systematic review aims to highlight the untapped potential of heart rate variability (HRV) and atrial fibrillation (AF) monitoring by wearable health monitoring... (Review)
Review
BACKGROUND
This systematic review aims to highlight the untapped potential of heart rate variability (HRV) and atrial fibrillation (AF) monitoring by wearable health monitoring devices as a critical diagnostic tool in cardiac surgery (CS) patients. We reviewed established predictive capabilities of HRV and AF monitoring in specific cardiosurgical scenarios and provide a perspective on additional predictive properties of wearable health monitoring devices that need to be investigated.
METHODS
After screening most relevant databases, we included 33 publications in this review. Perusing these publications on HRV's prognostic value, we could identify HRV as a predictor for sudden cardiac death, mortality after acute myocardial infarction (AMI), and post operative atrial fibrillation (POAF). With regards to standard AF assessment, which typically includes extensive periods of unrecorded cardiac activity, we demonstrated that continuous monitoring via wearables recorded significant cardiac events that would otherwise have been missed.
RESULTS
Photoplethysmography and single-lead electrocardiogram (ECG) were identified as the most useful and convenient technical assessment modalities, and their advantages and disadvantages were described in detail. As a call to further action, we observed that the scientific community has relatively extensively explored wearable AF screening, whereas HRV assessment to improve relevant clinical outcomes in CS is rarely studied; it still has great potential to be leveraged.
CONCLUSIONS
Therefore, risk assessment in CS would benefit greatly from earlier preoperative and postoperative AF detection, comprehensive and accurate assessment of cardiac health through HRV metrics, and continuous long-term monitoring. These should be achievable via commercially available wearables.
PubMed: 38323143
DOI: 10.21037/mhealth-23-19 -
ESC Heart Failure Jun 2024The purpose of this study was to systematically review the development, performance, and applicability of prognostic models developed for predicting poor events in... (Review)
Review
The purpose of this study was to systematically review the development, performance, and applicability of prognostic models developed for predicting poor events in patients with heart failure with preserved ejection fraction (HFpEF). Databases including Embase, PubMed, Web of Science Core Collection, the Cochrane Library, China National Knowledge Infrastructure, Wan Fang, Wei Pu, and China Biological Medicine were queried from their respective dates of inception to 1 June 2023, to examine multivariate models for prognostic prediction in HFpEF. Both forward and backward citations of all studies were included in our analysis. Two researchers individually used the Critical Appraisal and Data Extraction for Systematic Reviews of Prediction Modelling Studies (CHARMS) checklist to extract data and assess the quality of the models using the Predictive Mode Bias Risk Assessment Tool (PROBAST). Among the 6897 studies screened, 16 studies derived and/or validated a total of 39 prognostic models. The sample size ranges for model development, internal validation, and external validation are 119 to 5988, 152 to 1000, and 30 to 5957, respectively. The most frequently employed modelling technique was Cox proportional hazards regression. Six studies (37.50%) conducted internal validation of models; bootstrap and k-fold cross-validation were the commonly used methods for internal validation of models. Ten of these models (25.64%) were validated externally, with reported the c-statistic in the external validation set ranging from 0.70 to 0.96, while the remaining models await external validation. The MEDIA echo score and I-PRESERVE-sudden cardiac death prediction mode have been externally validated using multiple cohorts, and the results consistently show good predictive performance. The most frequently used predictors identified among the models were age, n-terminal pro-brain natriuretic peptide, ejection fraction, albumin, and hospital stay in the last 5 months owing to heart failure. All study predictor domains and outcome domains were at low risk of bias, high or unclear risk of bias of all prognostic models due to underreporting in the area of analysis. All studies did not evaluate the clinical utility of the prognostic models. Predictive models for predicting prognostic outcomes in patients with HFpEF showed good discriminatory ability but their utility and generalization remain uncertain due to the risk of bias, differences in predictors between models, and the lack of clinical application studies. Future studies should improve the methodological quality of model development and conduct external validation of models.
Topics: Humans; Heart Failure; Stroke Volume; Prognosis; Risk Assessment
PubMed: 38318693
DOI: 10.1002/ehf2.14696