1,721,101 research outputs found
Brugada Syndrome: The Endless Conundrum
No full textOverall, we feel that the evidence that we provided in 2002 and confirmed with the PRELUDE study—that a spontaneous type 1 pattern and a history of syncopal episodes (excluding syncopal episodes that are likely to be neurally mediated) is the strongest predictor of arrhythmic risk in Brugada syndrome and that the absence of a spontaneous type 1 pattern is the strongest predictor of favorable outcome at follow-up—is now further strengthened by these new data from Casado-Arroyo et al. that question the role of PES. In this respect, in light of the confirmed less malignant outcome of patients with Brugada syndrome, we believe PES inducibility may have an additional predictive value in addition to spontaneous type 1 pattern and syncope that may be highlighted only in a very large cohort that is able to demonstrate its effect. However, the lack of negative predictive value remains the major limitation in the clinical use of PES
Transgenic animal model for catecholaminergic polymorphic ventricular tachycardia (CPVT) and use thereof
No full textAbstract: The present invention refers to non-human transgenic mammals, preferably rodents, or mice, which comprise a mutation in the gene encoding for the cardiac ryanodine receptor (RyR2). Transgenic animals carrying the amino acid change R4496C in the RyR2 protein show a phenotype similar to that of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) (OMIM: 604772). Further provided are methods for using these animals as in vivo model of Catecholaminergic Polymorphic Ventricular Tachycardia and RyR2 dependent arrhythmias, in drug screening and for understanding the molecular basis of RyR2 dependent arrhythmias.Filed: May 4, 2006
Date of Patent: June 22, 2010
Inventors: Silvia G. Priori, Carlo Napolitan
Warning: not all carriers of pathogenic mutations in desmosomal genes should follow the same medical advices!
Full text linkThis work was supported by the Ricerca Corrente Funding Scheme of the Italian Ministry of Health (to S.G.P.). The Italian Ministry of Research and University Dipartimenti di Eccellenza 2018–2022 grant to the Molecular Medicine Department (University of Pavia)
Postmortem molecular analysis in victims of sudden unexplained death
No full textAmong several conditions that can be responsible for sudden cardiac death (SCD), an important role is played by long QT syndrome (LQTS). LQTS is a congenital electric heart disease that can be asymptomatic or have very severe clinical manifestation, leading to cardiac arrest. In fact, the first manifestation of LQTS can be hyperkinetic ventricular arrhythmias. The presence of LQTS should be considered in all cases of SCD where autopsy is negative for anatomic and histopathological findings. In these cases, after an accurate anamnesis, a genetic screening should always be performed. The screening on LQTS genes is performed on DNA extracted from paraffin-embedded tissues. Making a proper diagnosis in such cases can help to find new affected subjects among the family members of SCD victims and treat them. In these cases, if the pathologist does not make a correct diagnosis, can he or she be sued for malpractice?
Genetic risk stratification in cardiac arrhythmias
No full textPURPOSE OF REVIEW:
The current article provides a concise summary of the possibilities and limitations of genotype-based risk stratification of cardiac arrhythmias. We will outline the most important findings of the recent years in the light of their chronological and conceptual development.
RECENT FINDINGS:
Genotype-phenotype association studies in families with single-gene disorders as well as in the general population led to the discovery of several DNA variants significantly associated with the risk of sudden death or life-threatening arrhythmias. In genetic (monogenic) diseases, the disease-causing mutations modulate the risk of events and response to antiarrhythmic therapy according to the specific gene involved, to their position of the mutation and to their functional effects. These causal relationships have been quite well characterized in the case of long QT syndrome but are still less defined in the case of other inherited conditions. Quantitatively, the risk associated with a single genetic variant is large for DNA variants that cause monogenic inherited arrhythmias. Much different is the case of more common variants associated with the risk of arrhythmias in the general population as they are generally associated with a small effect size.
SUMMARY:
Genetic profiling identifies arrhythmogenic risk even if a complete picture allowing high-granularity risk stratification is yet to come
Implantable Loop Recorder in Inherited Arrhythmia Diseases: A Critical Tool for Symptom Diagnosis and Advanced Risk Stratification
No full textThe differential diagnosis between benign syncope common in a young population and life-threatening arrhythmic ones represents a major challenge in the management of patients with inherited arrhythmias (IAs) (1). In this population, ventricular arrhythmias can often be hemodynamically tolerated, adding to the complexity of the event’s adjudication (1). The probability of documenting the rhythm underlying a fainting event or a silent arrhythmia with periodic external recordings is low and inadequate to the need of long-term, real-life longitudinal monitoring. Implantable loop recorders (ILRs) have a recognized value for the evaluation of syncope and palpitations (2), but data on their role for IA are scarce. Furthermore, the advent of injectable devices increased their tolerability and acceptance, making them suitable also for children. Here, we provide retrospective data on the largest group of IA patients implanted with ILRs from a single tertiary center. Data are descriptive and expressed as percentage, median, and interquartile range (IQR)
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
ESC-ERC recommendations for the use of automated external defibrillators (AEDs) in Europe.
No full textAbnormal Propagation of Calcium Waves and Ultrastructural Remodeling in Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.
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