Search results for " Sudden"
showing 10 items of 80 documents
The EP300/TP53 pathway, a suppressor of the Hippo and canonical WNT pathways, is activated in human hearts with arrhythmogenic cardiomyopathy in the …
2021
Aim Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disease that typically manifests with cardiac arrhythmias, progressive heart failure and sudden cardiac death (SCD). ACM is mainly caused by mutations in genes encoding desmosome proteins. Desmosomes are cell-cell adhesion structures and hubs for mechanosensing and mechanotransduction. The objective was to identify the dysregulated molecular and biological pathways in human ACM in the absence of overt heart failure. Methods and results Transcriptomes in the right ventricular endomyocardial biopsy samples from three independent individuals carrying truncating mutations in the DSP gene and 5 control samples were analyzed by RNA-S…
Chronically elevated branched chain amino acid levels are pro-arrhythmic.
2022
Aim. Cardiac arrhythmias comprise a major health and economic burden and are associated with significant morbidity and mortality, including cardiac failure, stroke and sudden cardiac death (SCD). Development of efficient preventive and therapeutic strategies is hampered by incomplete knowledge of disease mechanisms and pathways. Our aim is to identify novel mechanisms underlying cardiac arrhythmia and SCD using an unbiased approach. Methods and Results. We employed a phenotype-driven N-ethyl-N-nitrosourea (ENU) mutagenesis screen and identified a mouse line with a high incidence of sudden death at young age (6-9 weeks) in the absence of prior symptoms. Affected mice were found to be homozyg…
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-…
2021
Importance: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia.Objective: To determine the frequency of and risk factors associated with adverse events among FLNCtv carriers compared with individuals carrying TTN truncating variants (TTNtv).Design, Setting, and Participants: This cohort study recruited 167 consecutive FLNCtv carriers and a control cohort of 244 patients with TTNtv matched for left ventricular ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 and 2018. Data analyses were conducted between June and October, 2020.Main…
Unexpected death for Takayasu aortitis associated with coronary ostial stenosis: case report.
2015
The differential diagnosis of vasculitis is often a difficult task due to the frequent morphological similarities that various vasculitic syndromes express when the heart is the target organ. The more the lesions are limited to the arterial tree with absent or almost silent coronary events, the less specific the anatomical and clinical frameworks. To create a series of clinical records and on the basis of these assumptions, the authors report a case concerning the sudden death of a 43-year-old woman which occurred while an ergonometric test was being carried out 28 days after the onset of the symptoms. A subsequent postmortem investigation/autopsy enabled us to detect a granulomatous aortit…
Anatomical features and clinical correlations in Caucasian patients with definite arrhythmogenic right ventricular dysplasia/cardiomyopathy.
2014
AIM: Arrhythmogenic right ventrticular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by fibrofatty replacement and a high risk of ventricular arrhythmias (VA) and sudden cardiac death (SCD). The aim of the present investigation is to examine the pathological profile and the clinical correlations in a group of ARVD/C patients. METHODS: We conducted a multicenter study evaluating 47 patients (31 men; mean age 37±14 years) with definite ARVD/C. Diagnosis was established according to the actual clinicomorphologic criteria at autopsy or clinically. We divided the study population in 2 different groups. First group included 28 alive patients and the second 19 pati…
Serial echocardiographic left ventricular ejection fraction measurements: A tool for detecting thalassemia major patients at risk of cardiac death
2013
Cardiac damage remains a major cause of mortality among patients with thalassemia major. The detection of a lower cardiac magnetic resonance T2* (CMR-T2*) signal has been suggested as a powerful predictor of the subsequent development of heart failure. However, the lack of worldwide availability of CMR-T2* facilities prevents its widespread use for follow-up evaluations of cardiac function in thalassemia major patients, warranting the need to assess the utility of other possible procedures. In this setting, the determination of left ventricular ejection fraction (LVEF) offers an accurate and reproducible method for heart function evaluation. These findings suggest a reduction in LVEF≥7%, ov…
Undetected coronary artery disease in apparently healthy athletes
2019
UEM1901 5.864 JCR (2019) Q1, 18/138 Cardiac & Cardiovascular Systems 1.459 SJR (2019) Q1, 58/362 Cardiology and Cardiovascular Medicine; Q2, 36/104 Epidemiology No data IDR 2019 UEM
Incidence and risk factors in sudden unexpected death in epilepsy: a prospective cohort study.
2001
Objective: To determine incidence of and risk factors for sudden unexpected death in epilepsy (SUDEP). Methods: Three epilepsy centers enrolled 4,578 patients and prospectively followed these patients for 16,463 patient-years. The cohort was screened for death annually. Deaths were investigated to determine whether SUDEP occurred. Potential risk factors were compared in SUDEP cases and in controls enrolled contemporaneously at the same center. Results: Incidence of SUDEP was 1.21/1,000 patient-years and was higher among women (1.45/1,000) than men (0.98/1,000). SUDEP accounted for 18% of all deaths. Occurrence of tonic-clonic seizures, treatment with more than two anticonvulsant medications…
Effect of Cardiorespiratory Fitness on Risk of Sudden Cardiac Death in Overweight/Obese Men Aged 42 to 60 Years
2018
The purpose of this study was to examine the subject and combined associations of cardiorespiratory fitness (fitness) and body mass index (BMI) with the risk of sudden cardiac death (SCD) in middle-aged men. This prospective study was based on a population sample of 2,357 men aged 42 to 60 years, who were followed up in the Kuopio Ischemic Heart Disease cohort study. Fitness was directly measured by peak oxygen uptake (VO2peak) during progressive exercise testing to volitional fatigue. Participants were divided into 4 groups (fit-normal weight, unfit-normal weight, fit-overweight/obese, and unfit-overweight/obese) based on the median values of fitness and BMI. A total of 253 (10.7%) SCDs oc…
Quantitative and qualitative analysis of DNA extracted from postmortem muscle tissues
1990
DNA extracted from 33 postmortem muscle specimens was analyzed using MZ 1.3, a hypervariable minisatellite probe, as well as locus-specific minisatellite probes (g3, MS1 and MS43). After storage at -25 degrees C for 10 months, DNA from all the samples was partially (approximately 21% of total DNA) degraded even when autopsy was performed 1 day postmortem. However, more than 90% of DNA samples up to at least 3 days postmortem were suitable to obtain good restriction fragment length polymorphism (RFLP) patterns. When small strips of specimen were stored for 8 days at room temperature in moist chambers, approximately 42% of total DNA was degraded. Only 30% of these DNA samples still showed goo…