Use of intravenous antiarrhythmics to identify concealed Brugada syndrome

Cardiology has recently witnessed the production of an overwhelming amount of data through the advances made in genetics and molecular biology research. Understanding of genetics has tremendous potential to aid in the prevention, diagnosis and treatment of the majority of diseases. Despite the high level of publicity for research discoveries, clinicians have had difficulty in discriminating between what is still basic research and what can be applied to patients. The fact is that we still lack the technology to perform genetic testing in a time frame that is acceptable to clinicians. Meanwhile, then, the only option is to rely on clinical tests that can help us better stratify the individuals at risk for a disease. For example, Brugada syndrome has benefited tremendously from genetics and molecular biology since its initial description in 1992. Genetics will provide a more definitive diagnosis for the disease in the future. For the time being, though, research has shown that the administration of an intravenous class I antiarrhythmic is very useful in identifying patients with a concealed form of the disease

Brugada syndrome: 12 years of progression.

Brugada syndrome is increasingly being recognized in clinical medicine. What started as an electrocardiographic curiosity has become an important focus of attention for individuals working in the different disciplines related to sudden cardiac death, from basic scientists to clinical cardiac electrophysiologists. In just 12 years, since the description of the disease, clinically relevant information is continuously being provided to physicians to help protect the individuals with Brugada syndrome to the best of our ability. And this information has been gathered thanks to the effort of hundreds of basic scientists, physicians and patients who continue to give their time, effort and data to help understand how the electrocardiographic pattern may cause sudden cardiac death. There are still many unanswered questions, both at the clinical and basic field. However, with the further collection of data, the longer follow-up and the continued interest from the basic science world we will have the necessary tools to the successful unraveling of the disease.</p

Recent Advances in Short QT Syndrome

Short QT syndrome is a highly malignant inherited cardiac disease characterized by ventricular tachyarrhythmias leading to syncope and sudden cardiac death. It is responsible of lethal episodes in young people, mainly infants. International guidelines establish diagnostic criteria with the presence of a QTc ≤ 340 ms in the electrocardiogram despite clinical diagnostic values remain controversial. In last years, clinical diagnosis, risk stratification as well as preventive therapies have been improved due to identification of pathophysiological mechanisms. The only effective option is implantation of a defibrillator despite Quinidine may be at times an effective option. Currently, a limited number of rare variants have been identified in seven genes, which account for nearly 20–30% of families. However, some of these variants are associated with phenotypes showing a shorter QT interval but no conclusive diagnosis of Short QT syndrome. Therefore, an exhaustive interpretation of each variant and a close genotype-phenotype correlation is necessary before clinical translation. Here, we review the main clinical and genetic hallmarks of this rare entity

Genètica i caos elèctric : el canal de sodi en la Síndrome de Brugada /

Títol obtingut de la portada digitalitzadaaConsultable des del TDXIn this work we have investigated the Brugada syndrome caused by mutations in the sodium channel. We have performed clinical and genetic investigations to identify the genetic carriers. We have also investigated how the genetic background and the external modifiers modulate the disease phenotype. We have been able to prove that in Brugada syndrome the genetic testing is very valuable for two main reasons: first, because in a family with an identified mutation we are able to identify the non-carriers, and therefore those that are free of the disease. Secondly genetic testing allows the adoption of preventive measures in asymptomatic carriers, like the rapid treatment of fever or the avoidance of drugs that may block the sodium channel. Only for those two reasons it is justifiable the genetic analysis. Finally we have shown that neither the type of mutation, nor its localization in the protein allows us to estimate the risk of sudden death. In the asymptomatic individual with a normal ECG, the presence of a mutation is only indicative of a risk of developing the disease, but it is not a given that he will suffer from it. Despite the increase in genetic testing, at present its practice does not seem justified if only to define the therapeutic aggressiveness. The asymptomatic individuals who develop symptoms at follow-up present always clear clinical alterations, like a prolongation of the QT interval or elevation of the ST segment. These ecg parameters already define the need to perform additional tests or the adoption of preventive measures. In conclusion, being only a genetic carrier does not justify a more aggressive treatment at present. The treatment has to be determined by the result of the clinical tests

Genética y deporte

La biomedicina ha experimentado grandes progresos científicos y técnicos en los últimos años, especialmente tras la descripción del genoma humano. Estas mejoras se han aplicado gradualmente en diversos ámbitos, que han sobrepasado el estudio de la patología para adentrarse en el estudio de la salud. En esta última se incluyen investigaciones en el campo de la actividad física y el deporte. La genética, por tanto, aporta conocimientos científicos que pueden ayudarnos a optimizar el rendimiento de un deportista de alto nivel, rentabilizar los efectos de la práctica del ejercicio físico y/o llevar a cabo una práctica deportiva segura, evaluando el riesgo de una enfermedad hereditaria asociada a la muerte súbita en deportistas

Genètica i esport

La biomedicina ha experimentat grans avenços científics i tècnics en els darrers anys, especialment després de la descripció del genoma humà. Aquestes millores s’han aplicat gradualment a diversos àmbits, que han sobrepassat l’estudi de la patologia per fins i tot endinsar-se en l’estudi de la salut. Entre aquesta darrera s’inclouen investigacions en el camp de l’activitat física i l’esport. La genètica, doncs, ens aporta uns coneixements científics que poden ajudar-nos a optimitzar el rendiment d’un esportista d’alt nivell, rendibilitzar els efectes de la pràctica de l’exercici físic i/o portar a terme una pràctica esportiva segura, tot avaluant el risc d’una malaltia hereditària associada a la mort sobtada en esportistes

Análisis de las actividades de evaluación enmarcadas en el método ABP

El grado de Medicina de la UdG nació integrando el Aprendizaje Basado en Problemas. En este método centrado en el estudiante, la evaluación es parte del aprendizaje y debe ser coherente con el método y los resultados de aprendizaje para potenciar la profundización de lo aprendido. En este estudio se han analizado las actividades de evaluación, estudiando el alineamiento con los resultados de aprendizaje y el método. Los resultados evidencian que los resultados de aprendizaje reflejan una demanda cognitiva baja, las actividades de evaluación, en gran parte alinean con el método, y se observa una coherencia entre las distintas actividades de evaluación. El estudio sugiere mejorar aspectos de los resultados de aprendizaje y de la evaluación y pretende potenciar la evaluación de la práctica docente para seguir avanzando en la facilitación del aprendizaje de los estudiantes

Interplay between R513 methylation and S516 phosphorylation of the cardiac voltage-gated sodium channel

Arginine methylation is a novel post-translational modification within the voltage-gated ion channel superfamily, including the cardiac sodium channel, Naᵥ1.5. We show that Naᵥ1.5 R513 methylation decreases S516 phosphorylation rate by 4 orders of magnitude, the first evidence of protein kinase A inhibition by arginine methylation. Reciprocally, S516 phosphorylation blocks R513 methylation. Naᵥ1.5 p.G514C, associated to cardiac conduction disease, abrogates R513 methylation, while leaving S516 phosphorylation rate unchanged. This is the first report of methylation–phosphorylation cross-talk of a cardiac ion channel

Negative Autopsy in Infant and Juvenile Population: Role of Cardiac Arrhythmias

Negative autopsy is a post-mortem examination in which a comprehensive analysis does not provide a cause of death. These include situation of death, anatomical and histological analysis, toxicology and microbiological study. A low part of autopsies remain without a conclusive cause of death, but all these cases are usually seen in young population, apparently healthy who died suddenly and unexpectedly. In these situations a cardiac arrhythmia is suspected as cause of death and genetic testing is recommended despite not regularly performed. Sudden death is a natural and unexpected decease that occurs in apparently healthy people, or whose disease was not severe enough to expect a fatal outcome. It can be due to several pathologies, usually of cardiac cause and called sudden cardiac death. In infants and young people, both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia are main causes in negative autopsies. These genetic diseases lead to ventricular fibrillation, syncope and sudden cardiac death in a normal heart. Unfortunately, sudden cardiac death could be the first manifestation of the diseases, being early identification and prevention a crucial point in current medical practice. This chapter focuses on sudden death and negative autopsy in young population, mainly due to cardiac arrhythmias