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Revista Portuguesa de Cardiologia :... May 2024Obstructive sleep apnea (OSA) is one of the main risk factors for cardiovascular diseases and is associated with both morbidity and mortality. OSA has also been linked... (Review)
Review
INTRODUCTION
Obstructive sleep apnea (OSA) is one of the main risk factors for cardiovascular diseases and is associated with both morbidity and mortality. OSA has also been linked to arrhythmias and sudden death.
OBJECTIVE
To assess whether OSA increases the risk of sudden death in the non-cardiac population.
METHODS
This is a systematic review of the literature. The descriptors "sudden death" and "sleep apnea" and "tachyarrhythmias" and "sleep apnea" were searched in the PubMed/Medline and SciELO databases.
RESULTS
Thirteen articles that addressed the relationship between OSA and the development of tachyarrhythmias and/or sudden death with prevalence data, electrocardiographic findings, and a relationship with other comorbidities were selected. The airway obstruction observed in OSA triggers several systemic repercussions, e.g., changes in intrathoracic pressure, intermittent hypoxia, activation of the sympathetic nervous system and chemoreceptors, and release of catecholamines. These mechanisms would be implicated in the appearance of arrhythmogenic factors, which could result in sudden death.
CONCLUSION
There was a cause-effect relationship between OSA and cardiac arrhythmias. In view of the pathophysiology of OSA and its arrhythmogenic role, studies have shown a higher risk of sudden death in individuals who previously had heart disease. On the other hand, there is little evidence about the occurrence of sudden death in individuals with OSA and no heart disease, and OSA is not a risk factor for sudden death in this population.
Topics: Humans; Arrhythmias, Cardiac; Death, Sudden; Risk Factors; Sleep Apnea Syndromes; Sleep Apnea, Obstructive
PubMed: 38309430
DOI: 10.1016/j.repc.2024.01.003 -
International Journal of Molecular... Jan 2024Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be... (Review)
Review
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype-phenotype correlation, which is useful for clinical research.
Topics: Humans; Cardiomyopathy, Hypertrophic; Genetic Testing; Arrhythmias, Cardiac; Autopsy; Fibrosis; Phenotype; Death, Sudden, Cardiac
PubMed: 38279275
DOI: 10.3390/ijms25021275 -
Clinical Cardiology Jan 2024Hypertrophic cardiomyopathy (HCM) is a common contemporary, treatable, genetic disorder that can be compatible with normal longevity. While current medical therapies are... (Review)
Review
Hypertrophic cardiomyopathy (HCM) is a common contemporary, treatable, genetic disorder that can be compatible with normal longevity. While current medical therapies are ubiquitous, they are limited by a lack of solid evidence, are often inadequate, poorly tolerated, and do not alter the natural disease course. As such, there has long been a need for effective, evidence-based, and targeted disease-modifying therapies for HCM. In this review, we redefine HCM as a treatable condition, evaluate current strategies for therapeutic intervention, and discuss novel myosin inhibitors. The majority of patients with HCM have elevated left ventricular outflow tract gradients, which predicts worse symptoms and adverse outcomes. Conventional pharmacological therapies for symptomatic HCM can help improve symptoms but are often inadequate and poorly tolerated. Septal reduction therapies (surgical myectomy and alcohol septal ablation) can safely and effectively reduce refractory symptoms and improve outcomes in patients with obstructive HCM. However, they require expertise that is not universally available and are not without risks. Currently, available therapies do not alter the disease course or the progressive cardiac remodeling that ensues, nor subsequent heart failure and arrhythmias. This has been regarded as an unmet need in the care of HCM patients. Novel targeted pharmacotherapies, namely cardiac myosin inhibitors, have emerged to reverse key pathophysiological changes and alter disease course. Their favorable outcomes led to the early Food and Drug Administration approval of mavacamten, a first-in-class myosin modulator, changing the paradigm for the pharmacological treatment of HCM.
Topics: United States; Humans; Cardiomyopathy, Hypertrophic; Heart; Disease Progression; Heart Failure; Myosins
PubMed: 38269637
DOI: 10.1002/clc.24207 -
Diagnostics (Basel, Switzerland) Jan 2024Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by the progressive replacement of the normal myocardium by fibroadipocytic... (Review)
Review
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by the progressive replacement of the normal myocardium by fibroadipocytic tissue. The importance of an early diagnosis is supported by a higher risk of sudden cardiac death in the pediatric population. We reviewed the literature on diagnosis, risk stratification, and prognosis in the pediatric population with ARVC. In case reports which analyzed children with ARVC, the most common sign was ventricular tachycardia, frequently presenting as dizziness, syncope, or even cardiac arrest. Currently, there is no gold standard for diagnosing ARVC in children. Nevertheless, genetic analysis may provide a proper diagnosis tool for asymptomatic cases. Although risk stratification is recommended in patients with ARVC, a validated prediction model for risk stratification in children is still lacking; thus, it is a matter of further research. In consequence, even though ARVC is a relatively rare condition in children, it negatively impacts the survival and clinical outcomes of the patients. Therefore, appropriate and validated diagnostic and risk stratification tools are crucial for the early detection of children with ARVC, ensuring a prompt therapeutic intervention.
PubMed: 38248052
DOI: 10.3390/diagnostics14020175 -
Open Heart Jan 2024A quarter of patients with severe aortic stenosis (AS) were asymptomatic, and only a third of them survived at the end of 4 years. Only a select subset of these patients... (Meta-Analysis)
Meta-Analysis
Systematic review and meta-analysis of early aortic valve replacement versus conservative therapy in patients with asymptomatic aortic valve stenosis with preserved left ventricle systolic function.
BACKGROUND
A quarter of patients with severe aortic stenosis (AS) were asymptomatic, and only a third of them survived at the end of 4 years. Only a select subset of these patients was recommended for aortic valve replacement (AVR) by the current American College of Cardiology/American Heart Association guidelines. We intended to study the effect of early AVR (eAVR) in this subset of asymptomatic patients with preserved left ventricle function.
METHODS AND RESULTS
We searched PubMed and Embase for randomised and observational studies comparing the effect of eAVR versus conservative therapy in patients with severe, asymptomatic AS and normal left ventricular function. The primary outcome was all-cause mortality. The secondary outcomes were composite major adverse cardiac events (MACE) (study defined), myocardial infarction (MI), stroke, cardiac death, sudden death, the development of symptoms, heart failure hospitalisations and major bleeding. We used GRADEPro to assess the certainty of the evidence. In the randomised controlled trial (RCT) only analysis, we found no significant difference in all-cause mortality between the early aortic intervention group versus the conservative arm (CA) (incidence rate ratio, IRR (CI): 0.5 (0.2 to 1.1), I=31%, p=0.09). However, in the overall cohort, we found mortality benefit for eAVR over CA (IRR (CI): 0.4 (0.3 to 0.7), I=84%, p<0.01). There were significantly lower MACE, cardiac death, sudden death, development of symptoms and heart failure hospitalisations in the eAVR group. We noticed no difference in MI, stroke and major bleeding.
CONCLUSION
We conclude that there is no reduction in all-cause mortality in the eAVR arm in patients with asymptomatic AS with preserved ejection fraction. However, eAVR reduces heart failure related hospitalisations and death or heart failure hospitalisations.
PROSPERO REGISTRATION NUMBER
CRD42022306132.
Topics: Humans; Aortic Valve; Aortic Valve Stenosis; Conservative Treatment; Death, Sudden, Cardiac; Heart Failure; Hemorrhage; Myocardial Infarction; Stroke; United States; Ventricular Function, Left; Heart Valve Prosthesis Implantation; Transcatheter Aortic Valve Replacement
PubMed: 38191233
DOI: 10.1136/openhrt-2023-002511 -
Genes Dec 2023Myocardial bridging (MB) is a congenital coronary artery anomaly that has limited molecular disease state characterization. Though a large portion of individuals may be... (Review)
Review
BACKGROUND
Myocardial bridging (MB) is a congenital coronary artery anomaly that has limited molecular disease state characterization. Though a large portion of individuals may be asymptomatic, the myocardial ischemia caused by this anomaly can lead to angina, acute coronary syndrome, coronary artery disease, and sudden cardiac death in patients.
OBJECTIVE
This study aims to summarize and consolidate the current literature regarding the genomic associations of myocardial bridge development and, in doing so, prompt further investigation into the molecular basis of myocardial bridge development.
METHODS
We performed a systematic literature review of myocardial bridging using the key search terms "Myocardial Bridging" AND ("Gene" OR "Allelic Variants" OR "Genomic") in the databases of PubMed, CINAHL, EMBASE, and Cochran. We then performed a detailed review of the resulting abstracts and a full-text screening, summarizing these findings in this report.
RESULTS
In total, we identified eight articles discussing the associated genomics behind MB development. Studies included review articles, case reports and genomic studies that led to the discussion of several genes: (E434K), (I1175M), and ; , , (A1157G), and (A714T); (A862V); (E31D); and (R2313Q), and to the discussion of miRNAs (miR-29b, miR-151-3p, miR-126, miR-503-3p, and miR-645).
CONCLUSIONS
Our study is the first to summarize the genes and molecular regulators related to myocardial bridges as they exist in the current literature. This work concludes that definitive evidence is lacking, warranting much broader genetic and genomic studies.
Topics: Humans; Myocardial Bridging; Coronary Artery Disease; MicroRNAs; Genomics
PubMed: 38136997
DOI: 10.3390/genes14122175 -
Frontiers in Cardiovascular Medicine 2023Hypertrophic cardiomyopathy (HCM) is recognized as the most prevalent form of genetic cardiomyopathy, and recent investigations have shed light on the existence of sex... (Review)
Review
BACKGROUND
Hypertrophic cardiomyopathy (HCM) is recognized as the most prevalent form of genetic cardiomyopathy, and recent investigations have shed light on the existence of sex disparities in terms of clinical presentation, disease progression, and outcomes.
OBJECTIVES
This study aimed to systematically review the literature and perform a meta-analysis to comprehensively compare the clinical outcomes between female and male patients with HCM.
METHODS
A thorough search was conducted in databases including PubMed, Embase, Cochrane Library, and Web of Science, encompassing literature from inception until June 2023. The primary endpoints examined were: (1) all-cause mortality; (2) an arrhythmic endpoint comprising sudden cardiac death (SCD), sustained ventricular tachycardia, ventricular fibrillation, or aborted SCD; and (3) a composite endpoint incorporating either (1) or (2), in addition to hospitalization for heart failure or cardiac transplantation. Pooled estimates were derived using a random-effects meta-analysis model.
RESULTS
The analysis encompassed a total of 29 observational studies, involving 44,677 patients diagnosed with HCM, of which 16,807 were female. Baseline characteristics revealed that the female group exhibited an advanced age [55.66 ± 0.04 years vs. 50.38 ± 0.03 years, pooled mean difference (MD) = 0.31, 95% CI: 0.22-0.40, = 0.000, = 88.89%], a higher proportion of New York Heart Association class III/IV patients [pooled odds ratio (OR) = 1.94, 95% CI: 1.55-2.43, = 0.000, = 85.92%], and a greater prevalence of left ventricular outflow tract gradient greater than or equal to 30 mmHg (pooled OR = 1.48, 95% CI: 1.27-1.73, = 0.000, = 68.88%) compared to the male group. The female group were more likely to have a positive genetic test (pooled OR = 1.27, 95% CI: 1.08-1.48, = 0.000, = 42.74%) and to carry the myosin heavy chain beta 7 mutation (pooled OR = 1.26, 95% CI: 1.04-1.54, = 0.020, = 0.00%) compared to the male group. Female sex exhibited a significant association with increased risks of all-cause mortality (pooled OR = 1.62, 95% CI: 1.38-1.89, = 0.000, = 72.78%) and the composite endpoint (pooled OR = 1.47, 95% CI: 1.20-1.79, = 0.000, = 84.96%), while no substantial difference was observed in the arrhythmic endpoint (pooled OR = 1.08, 95% CI: 0.87-1.34, = 0.490, = 55.48%).
CONCLUSIONS
The present findings suggest that female patients with HCM tend to experience poorer clinical outcomes. It is imperative to critically reevaluate disease definitions and enhance awareness to mitigate delays in the diagnosis and treatment of HCM in women, thereby fostering equitable healthcare practices.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/, PROSPERO (CRD42023431881).
PubMed: 38116536
DOI: 10.3389/fcvm.2023.1252266 -
Annals of Medicine 2023Cardiac sympathetic hyperinnervation after myocardial infarction (MI) is associated with arrhythmogenesis and sudden cardiac death. The characteristics of cardiac... (Review)
Review
BACKGROUND
Cardiac sympathetic hyperinnervation after myocardial infarction (MI) is associated with arrhythmogenesis and sudden cardiac death. The characteristics of cardiac sympathetic hyperinnervation remain underexposed.
OBJECTIVE
To provide a systematic review on cardiac sympathetic hyperinnervation after MI, taking into account: (1) definition, experimental model and quantification method and (2) location, amount and timing, in order to obtain an overview of current knowledge and to expose gaps in literature.
METHODS
References on cardiac sympathetic hyperinnervation were screened for inclusion. The included studies received a full-text review and quality appraisal. Relevant data on hyperinnervation were collected and qualitatively analysed.
RESULTS
Our literature search identified 60 eligible studies performed between 2000 and 2022. Cardiac hyperinnervation is generally defined as an increased sympathetic nerve density or increased number of nerves compared to another control group (100%). Studies were performed in a multitude of experimental models, but most commonly in male rats with permanent left anterior descending (LAD) artery ligation (male: 63%, rat: 68%, permanent ligation: 93%, LAD: 97%). Hyperinnervation seems to occur mainly in the borderzone. Quantification after MI was performed in regions of interest in µm/mm (41%) or in percentage of nerve fibres (46%) and the reported amount showed a great variation ranging from 439 to 126,718 µm/mm. Hyperinnervation seems to start from three days onwards to >3 months without an evident peak, although studies on structural evaluation over time and in the chronic phase were scarce.
CONCLUSIONS
Cardiac sympathetic hyperinnervation after MI occurs mainly in the borderzone from three days onwards and remains present at later timepoints, for at least 3 months. It is most commonly studied in male rats with permanent LAD ligation. The amount of hyperinnervation differs greatly between studies, possibly due to differential quantification methods. Further studies are required that evaluate cardiac sympathetic hyperinnervation over time and in the chronic phase, in transmural sections, in the female sex, and in MI with reperfusion.
Topics: Male; Female; Rats; Humans; Animals; Heart; Myocardial Infarction; Arrhythmias, Cardiac; Sympathetic Nervous System; Death, Sudden, Cardiac
PubMed: 38065671
DOI: 10.1080/07853890.2023.2283195 -
International Journal of Cardiology.... Dec 2023
Authors' reply to 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" by M. Nürnberg, F....
PubMed: 38059169
DOI: 10.1016/j.ijcha.2023.101299 -
Current Problems in Cardiology Feb 2024Several investigations have shown that existing risk stratification processes remain insufficient for stratifying sudden cardiac death risk in arrhythmogenic right... (Meta-Analysis)
Meta-Analysis Review
The pivotal role of compelling high-risk electrocardiographic markers in prediction of ventricular arrhythmic risk in arrhythmogenic right ventricular cardiomyopathy: A systematic review and meta-analysis.
INTRODUCTION
Several investigations have shown that existing risk stratification processes remain insufficient for stratifying sudden cardiac death risk in arrhythmogenic right ventricular cardiomyopathy (ARVC). Multiple auxiliary parameters are investigated to offer a more precise prognostic model. Our aim was to assess the association between several ECG markers (epsilon waves, prolonged terminal activation duration (TAD) of QRS, fragmented QRS (fQRS), late potentials on signal-averaged electrocardiogram (SA-ECG), T-wave inversion (TWI) in right precordial leads, and extension of TWI in inferior leads) with the risk of developing poor outcomes in ARVC.
METHODS
A systematic literature search from several databases was conducted until September 9th, 2023. Studies were eligible if it investigated the relationship between the ECG markers with the risk of developing ventricular arrhythmic events.
RESULTS
This meta-analysis encompassed 25 studies with a total of 3767 participants. Our study disclosed that epsilon waves, prolonged TAD of QRS, fQRS, late potentials on SA-ECG, TWI in right precordial leads, and extension of TWI in inferior leads were associated with the incremental risk of ventricular arrhythmias, implantable cardioverter-defibrillator shock, and sudden cardiac death, with the risk ratios ranging from 1.46 to 2.11. In addition, diagnostic test accuracy meta-analysis stipulated that the extension of TWI in inferior leads had the uppermost overall area under curve (AUC) value amidst other ECG markers apropos of our outcomes of interest.
CONCLUSION
A multivariable risk assessment strategy based on the previously stated ECG markers potentially enhances the current risk stratification models in ARVC patients, especially extension of TWI in inferior leads.
Topics: Humans; Arrhythmogenic Right Ventricular Dysplasia; Electrocardiography; Arrhythmias, Cardiac; Death, Sudden, Cardiac; Risk Assessment
PubMed: 38040211
DOI: 10.1016/j.cpcardiol.2023.102241