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Europace : European Pacing,... Jun 2024
PubMed: 38902965
DOI: 10.1093/europace/euae171 -
JAMA Jun 2024Sudden death and cardiac arrest frequently occur without explanation, even after a thorough clinical evaluation. Calcium release deficiency syndrome (CRDS), a...
IMPORTANCE
Sudden death and cardiac arrest frequently occur without explanation, even after a thorough clinical evaluation. Calcium release deficiency syndrome (CRDS), a life-threatening genetic arrhythmia syndrome, is undetectable with standard testing and leads to unexplained cardiac arrest.
OBJECTIVE
To explore the cardiac repolarization response on an electrocardiogram after brief tachycardia and a pause as a clinical diagnostic test for CRDS.
DESIGN, SETTING, AND PARTICIPANTS
An international, multicenter, case-control study including individual cases of CRDS, 3 patient control groups (individuals with suspected supraventricular tachycardia; survivors of unexplained cardiac arrest [UCA]; and individuals with genotype-positive catecholaminergic polymorphic ventricular tachycardia [CPVT]), and genetic mouse models (CRDS, wild type, and CPVT were used to define the cellular mechanism) conducted at 10 centers in 7 countries. Patient tracings were recorded between June 2005 and December 2023, and the analyses were performed from April 2023 to December 2023.
INTERVENTION
Brief tachycardia and a subsequent pause (either spontaneous or mediated through cardiac pacing).
MAIN OUTCOMES AND MEASURES
Change in QT interval and change in T-wave amplitude (defined as the difference between their absolute values on the postpause sinus beat and the last beat prior to tachycardia).
RESULTS
Among 10 case patients with CRDS, 45 control patients with suspected supraventricular tachycardia, 10 control patients who experienced UCA, and 3 control patients with genotype-positive CPVT, the median change in T-wave amplitude on the postpause sinus beat (after brief ventricular tachycardia at ≥150 beats/min) was higher in patients with CRDS (P < .001). The smallest change in T-wave amplitude was 0.250 mV for a CRDS case patient compared with the largest change in T-wave amplitude of 0.160 mV for a control patient, indicating 100% discrimination. Although the median change in QT interval was longer in CRDS cases (P = .002), an overlap between the cases and controls was present. The genetic mouse models recapitulated the findings observed in humans and suggested the repolarization response was secondary to a pathologically large systolic release of calcium from the sarcoplasmic reticulum.
CONCLUSIONS AND RELEVANCE
There is a unique repolarization response on an electrocardiogram after provocation with brief tachycardia and a subsequent pause in CRDS cases and mouse models, which is absent from the controls. If these findings are confirmed in larger studies, this easy to perform maneuver may serve as an effective clinical diagnostic test for CRDS and become an important part of the evaluation of cardiac arrest.
PubMed: 38900490
DOI: 10.1001/jama.2024.8599 -
Radiology. Cardiothoracic Imaging Jun 2024Purpose To use unsupervised machine learning to identify phenotypic clusters with increased risk of arrhythmic mitral valve prolapse (MVP). Materials and Methods This...
Purpose To use unsupervised machine learning to identify phenotypic clusters with increased risk of arrhythmic mitral valve prolapse (MVP). Materials and Methods This retrospective study included patients with MVP without hemodynamically significant mitral regurgitation or left ventricular (LV) dysfunction undergoing late gadolinium enhancement (LGE) cardiac MRI between October 2007 and June 2020 in 15 European tertiary centers. The study end point was a composite of sustained ventricular tachycardia, (aborted) sudden cardiac death, or unexplained syncope. Unsupervised data-driven hierarchical -mean algorithm was utilized to identify phenotypic clusters. The association between clusters and the study end point was assessed by Cox proportional hazards model. Results A total of 474 patients (mean age, 47 years ± 16 [SD]; 244 female, 230 male) with two phenotypic clusters were identified. Patients in cluster 2 (199 of 474, 42%) had more severe mitral valve degeneration (ie, bileaflet MVP and leaflet displacement), left and right heart chamber remodeling, and myocardial fibrosis as assessed with LGE cardiac MRI than those in cluster 1. Demographic and clinical features (ie, symptoms, arrhythmias at Holter monitoring) had negligible contribution in differentiating the two clusters. Compared with cluster 1, the risk of developing the study end point over a median follow-up of 39 months was significantly higher in cluster 2 patients (hazard ratio: 3.79 [95% CI: 1.19, 12.12], = .02) after adjustment for LGE extent. Conclusion Among patients with MVP without significant mitral regurgitation or LV dysfunction, unsupervised machine learning enabled the identification of two phenotypic clusters with distinct arrhythmic outcomes based primarily on cardiac MRI features. These results encourage the use of in-depth imaging-based phenotyping for implementing arrhythmic risk prediction in MVP. MR Imaging, Cardiac, Cardiac MRI, Mitral Valve Prolapse, Cluster Analysis, Ventricular Arrhythmia, Sudden Cardiac Death, Unsupervised Machine Learning © RSNA, 2024.
Topics: Humans; Mitral Valve Prolapse; Female; Male; Middle Aged; Unsupervised Machine Learning; Retrospective Studies; Phenotype; Registries; Magnetic Resonance Imaging, Cine; Arrhythmias, Cardiac; Adult; Magnetic Resonance Imaging
PubMed: 38900026
DOI: 10.1148/ryct.230247 -
Journal of Cardiovascular... Jun 2024Brugada syndrome (BrS) is a cardiac electrophysiological disease with unknown etiology, associated with sudden cardiac death. Symptomatic patients are treated with... (Review)
Review
Brugada syndrome (BrS) is a cardiac electrophysiological disease with unknown etiology, associated with sudden cardiac death. Symptomatic patients are treated with implanted cardiac defibrillator, but no risk stratification strategy is effective in patients that are at low to medium arrhythmic risk. Cardiac computational modeling is an emerging tool that can be used to verify the hypotheses of pathogenesis and inspire new risk stratification strategies. However, to obtain reliable results computational models must be validated with consistent experimental data. We reviewed the main electrophysiological and structural variables from BrS clinical studies to assess which data could be used to validate a computational approach. Activation delay in the epicardial right ventricular outflow tract is a consistent finding, as well as increased fibrosis and subclinical alterations of right ventricular functional and morphological parameters. The comparison between other electrophysiological variables is hindered by methodological differences between studies, which we commented. We conclude by presenting a recent theory unifying electrophysiological and structural substrate in BrS and illustrate how computational modeling could help translation to risk stratification.
PubMed: 38899376
DOI: 10.1111/jce.16341 -
Cureus May 2024Iatrogenic aorto-coronary dissection (IACD) is a rare complication of interventional and surgical cardiac procedures, with a very high mortality burden. Here, we report...
Iatrogenic aorto-coronary dissection (IACD) is a rare complication of interventional and surgical cardiac procedures, with a very high mortality burden. Here, we report the case of a 71-year-old female with a past medical history of paroxysmal atrial fibrillation, mild to moderate aortic insufficiency, hypertension, and hyperlipidemia, who presented with classic anginal symptoms and underwent a cardiac catheterization, during which she suffered Iatrogenic right coronary artery (RCA) dissection and ascending aortic dissection resulting in sudden death. IACD is a rare complication, with a fatal prognosis. Coronary angiography and percutaneous coronary intervention (PCI) are considered safe, with a low risk of major complications including coronary perforations, and a very low risk of Iatrogenic aortic dissection (IAD). The coronary injury occurs more commonly during PCI of chronic total occlusion (CTO) or RCA interventions and can extend to the aortic root. IAD is often fatal and has worse outcomes than spontaneous dissection.
PubMed: 38899246
DOI: 10.7759/cureus.60690 -
Heart Failure Reviews Jun 2024Inherited cardiomyopathies are genetic diseases that can lead to heart failure and sudden cardiac death. These conditions tend to run in families, following an autosomal... (Review)
Review
Inherited cardiomyopathies are genetic diseases that can lead to heart failure and sudden cardiac death. These conditions tend to run in families, following an autosomal dominant pattern where first-degree relatives have a 50% chance of carrying the pathogenic variant. Despite significant advancements and increased accessibility of genetic testing, accurately predicting the phenotypic expression of these conditions remains challenging due to the inherent variability in their clinical manifestations and the incomplete penetrance observed. This poses challenges in providing patient care and effectively communicating the potential risk of future disease to patients and their families. To address these challenges, this review aims to synthesize the available evidence on penetrance, expressivity, and factors influencing disease expression to improve communication and risk assessment for patients with inherited cardiomyopathies and their family members.
PubMed: 38898187
DOI: 10.1007/s10741-024-10405-x -
European Journal of Radiology Jun 2024Takotsubo syndrome (TS) is characterized by transient myocardial dysfunction with outcomes ranging from favorable to life-threatening. Cardiovascular magnetic resonance... (Review)
Review
BACKGROUND
Takotsubo syndrome (TS) is characterized by transient myocardial dysfunction with outcomes ranging from favorable to life-threatening. Cardiovascular magnetic resonance (CMR) has emerged as an essential tool in its diagnosis and management and is consistently recommended by current guidelines in the diagnostic work-up. However, the prognostic value of CMR in patients with TS remains undetermined. The aim of this study was to assess the prognostic value of CMR in managing patients with TS.
METHOD
PubMed, MEDLINE via Ovid, Scopus, and the Cochrane Library were searched to identify studies reporting the prognostic role of multiparameteric CMR in patients with TS with a follow-up ≥ 12 months. The primary endpoint was major adverse cardiovascular and cerebrovascular events (MACCE), defined as all-cause mortality, cardiac death, heart failure, sudden cardiac death, recurrence of TS, and cerebrovascular events.
RESULTS
Five studies with 564 patients were included for reporting correlation of CMR parameters with MACCE. Primary endpoint occurred in 69 (12%) patients. Among the CMR parameters assessed, myocardial strain parameters (including measurements of the left atrium, left and right ventricle), right ventricle involvement, and a CMR-based radiomics model demonstrated correlations with MACCE. Additionally, one study showed the predictive ability of a CMR score.
CONCLUSION
The current systematic review suggests that CMR may offer prognostic insights in TS patients, underscoring its potential clinical utility for integration into clinical practice. However, scarce data are currently available; hence, further research is needed.
PubMed: 38897052
DOI: 10.1016/j.ejrad.2024.111576 -
American Journal of Medical Genetics.... Jun 2024The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole...
The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults. Variants were filtered by gnomAD allele frequencies and predictions of functional consequences. Variants of interest were identified in 88 genes, in 64.6% of our cohort. Seventy-three of these have been previously associated with SIDS/SUID/SUDP. Forty-three can be characterized as cardiac genes and are related to cardiomyopathies, arrhythmias, and other conditions. Variants in 22 genes were associated with neurologic functions. Variants were also found in 13 genes reported to be pathogenic for various systemic disorders and in two genes associated with immunological function. Variants in eight genes are implicated in the response to hypoxia and the regulation of reactive oxygen species (ROS) and have not been previously described in SIDS/SUID/SUDP. Seventy-two infants met the triple risk hypothesis criteria. Our study confirms and further expands the list of genetic variants associated with SUID. The abundance of genes associated with heart disease and the discovery of variants associated with the redox metabolism have important mechanistic implications for the pathophysiology of SUID.
PubMed: 38895864
DOI: 10.1002/ajmg.a.63596 -
Journal of Cellular and Molecular... Jun 2024Cardiac hypertrophy, worldwide known as an adaptive functional compensatory state of myocardial stress, is mainly believed to proceed to severe heart diseases, even to...
Cardiac hypertrophy, worldwide known as an adaptive functional compensatory state of myocardial stress, is mainly believed to proceed to severe heart diseases, even to sudden death. Emerging studies have explored the microRNA alteration during hypertrophy. However, the mechanisms of microRNAs involved in cardiac hypertrophy are still uncertain. We studied young rats to establish abdominal aorta coarctation (AAC) for 4 weeks. With the significant downregulated cardiac function and upregulated hypertrophic biomarkers, AAC-induced rats showed enlarged myocardiocytes and alterations in microRNAs, especially downregulated miR-31-5p. miR-31-5p targets the 3'UTR of Nfatc2ip and inhibits myocardial hypertrophy in vitro and in vivo. Furthermore, we verified that Nfatc2ip is necessary and sufficient for cardiac hypertrophy in neonatal rat cardiomyocytes. Moreover, we found miR-31-5p inhibited the colocalization of Nfatc2ip and hypertrophic gene β-Mhc. Luciferase assay and ChiP-qPCR test demonstrated that Nfatc2ip binded to the core-promoter of β-Mhc and enhanced its transcriptional activity. Above all, our study found a new pathway, mir-31-5p/Nfatc2ip/β-Mhc, which is involved in cardiac hypertrophy, suggesting a potential target for intervention of cardiac hypertrophy.
Topics: MicroRNAs; Animals; Cardiomegaly; NFATC Transcription Factors; Myocytes, Cardiac; Rats; Male; Rats, Sprague-Dawley; Gene Expression Regulation; 3' Untranslated Regions; Disease Models, Animal
PubMed: 38894694
DOI: 10.1111/jcmm.18413 -
Diagnostics (Basel, Switzerland) Jun 2024Frequent and excessive consumption of alcohol, be it episodic or sustained misuse, ranks among the top causes of mortality globally. This comprehensive analysis seeks to... (Review)
Review
Frequent and excessive consumption of alcohol, be it episodic or sustained misuse, ranks among the top causes of mortality globally. This comprehensive analysis seeks to elucidate how alcohol misuse precipitates death, with a particular focus on associated cardiac anomalies. Notably, the phenomenon of "Holiday Heart Syndrome", linked to binge drinking, is recognized for inducing potentially fatal cardiac arrhythmias. Moreover, persistent alcohol consumption is implicated in the development of alcoholic cardiomyopathy, a condition that underlies heart failure and arrhythmic disturbances of the heart. Additionally, individuals undergoing withdrawal from alcohol frequently exhibit disruptions in normal heart rhythm, posing a risk of death. This review further delves into additional alcohol-related mortality factors, including the heightened likelihood of hypertension, cerebrovascular accidents (strokes), and the connection between excessive alcohol use and Takotsubo syndrome.
PubMed: 38893715
DOI: 10.3390/diagnostics14111189