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This review explores gender disparities in cardiac electrophysiology, highlighting differences in the electrical activity of the heart between men and women. It emphasizes the importance of understanding these variances for correct diagnosis and effective treatment of cardiac arrhythmias. Women show distinct cardiac characteristics influenced by sex hormones, affecting their susceptibility to various arrhythmias. The manuscript covers the classification, mechanisms, and management of arrhythmias in women, considering factors such as pregnancy and menopause. By addressing these gender-specific nuances, it aims to improve healthcare practices and outcomes for female patients with cardiac rhythm disorders. [ABSTRACT FROM AUTHOR]

El síndrome del intestino irritado (sii) es una alteración frecuente en la pobla-ción occidental identificado por dolor abdominal y trastornos en el hábito intestinal. Además, provoca efectos perjudiciales en la vida diaria de los pacientes como estrés psicológico y pérdidas socioeconómicas. Su fisio-patología es heterogénea, donde factores psicosociales o la inflamación de la mucosa pueden causar su aparición. Recientemente, distintos estudios han evidenciado el involucramiento de las mutaciones de las subunidades alfa de los canales de sodio dependientes de voltaje (Nav1.5), expresadas por el gen SCN5A, en el desarrollo del sii. Sin embargo, estos hallazgos si-guen siendo prematuros y es necesaria más investigación al respecto. Por lo tanto, con el objetivo de recopilar los datos disponibles más actualizados sobre las mutaciones del SCN5A y sus implicaciones en el desarrollo del sii, así como también presentar las limitaciones del conocimiento actual del tema, se elaboró la presente revisión narrativa

Brugada syndrome is a hereditary cardiac channelopathy that predisposes to ventricular tachyarrhythmias and, as a consequence, to sudden death. Its diagnosis is based on a specific electrocardiographic pattern. There are few reports on this syndrome in pregnancy. This article presents the case of a 26-year-old pregnant woman with implantable cardioverter-defibrillator due to this cause, who was referred to the National Department of Heart Disease in Pregnancy where she remained under monitoring, stable, without any complication. There are controversies about whether or not the increase in female hormones is a protective factor in pregnant women with Brugada syndrome. Despite the generally benign course of this disease during pregnancy, there are still important questions to be clarified. The follow-up of patients is considered essential to guarantee maternalfetal well-being. [ABSTRACT FROM AUTHOR]

Sudden cardiac death and malignant ventricular arrhythmias --in individuals without demonstrable structural heart disease by conventional methods--, have long been a subject of controversy. Primary electrical diseases became equivalent to purely electrical diseases, and the term "channelopathy" has undergone modifications because alterations in some interacting proteins are added to genetic mutations, and because there are structural abnormalities such as inflammation, fibrosis, adiposis, myocarditis, microaneurysms, increased collagen, mechanical dysfunction and others, evidenced by more sensitive diagnostic procedures: the heart is normal in appearance but the myocytes are not. In addition to the genetic basis (ion channel dysfunction) and the clinical presentation, structural alterations are integrated and Brugada, long QT and short QT syndromes are considered as organic- functional, electroanatomic diseases, requiring their reclassification, which is transcendental to stratify risk and adopt the most appropriate therapeutic approach. [ABSTRACT FROM AUTHOR]

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Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Enfermería en Cardiologia is the property of Asociacion Espanola de Enfermeria en Cardiologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Las parálisis periódicas primarias son canalopatías poco frecuentes, de las cuales hacen parte: la parálisis periódica hipocalémica, la parálisis periódica hipercalémica y el síndrome Andersen-Tawil; son caracterizadas por ataques de debilidad muscular generalizada, con recuperación de la fuerza entre los ataques. Presentamos el caso de una mujer de 21 años con el segundo episodio de parálisis y documentación de hipocalemia, sin antecedentes de importancia, sin factores clínicos o paraclínicos que expliquen el trastorno electrolítico, con recuperación posterior de la fuerza al realizar tratamiento de la hipocalemia. Posteriormente se lleva a cabo una revisión del tema.

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Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a frequent entity characterized by generalized seizures with a wide phenotypic variety; the age of onset is 3 months and it persists beyond 6 years. Seizures may or may not be induced by fever. The disease has shown an autosomic dominant trait, incomplete penetrance and association with mutations on the genes that encode voltage-dependent sodium channels and the chloride neuronal channels on the central nervous system. The wide spectrum GEFS+ phenotype has been related with others entities such as Severe Myoclonic Epilepsy of Infancy (SMEI) and Intractable Childhood Epilepsy with Frequent Generalized Tonic-Clonic Seizures (ICEGTC); they have mutations in common with GEFS+ according to several recently published articles. This review compiles up to date information about EGCF+ with the aim of giving the reader a knowledge of this entity and of its association with mutations that participate in its pathogenesis. La Epilepsia Generalizada Con Convulsiones Febriles Plus (EGCF+), es una entidad relativamente común. Se caracteriza por convulsiones de tipo generalizado con una gran variabilidad fenotípica; se presenta desde los 3 meses de edad y persiste más allá de los 6 años; las convulsiones pueden ser precipitadas por fiebre pero se presentan también sin ella. La enfermedad se ha asociado a herencia autosómica dominante con penetrancia incompleta, en la que intervienen mutaciones de los genes que codifican los canales iónicos de sodio dependientes del voltaje y de los canales iónicos de cloro en las neuronas del Sistema Nervioso Central (SNC). El amplio fenotipo de la EGCF+ se ha encontrado en asociación con otras entidades como la Epilepsia Mioclónica Severa del Lactante (EMSL) y la Epilepsia Generalizada Tónico-Clónica Intratable de la Infancia (EGTCII), las cuales han presentado mutaciones comunes con las de la EGCF+, según informes recientemente publicados. Esta revisión pretende recopilar información de la literatura publicada sobre la EGCF+, con el objeto de brindar al lector un mejor conocimiento de esta entidad y de su asociación con las mutaciones que participan en su patogenia.

Cystic fibrosis (CF) is an autosomal recessive genetic disease characterized by dysfunction of a protein called cystic fibrosis transmembrane conductance regulator (CFTR). The clinical syndrome is multisystem and results from defective transport of chloride. In general, it features a wide range of manifestations, among them, progressive lung disease, gastrointestinal disorders, liver disease, male infertility, malnutrition, and high concentrations of electrolytes in sweat. Although it is considered a childhood disease, the number of adult patients with CF has increased considerably, due to the advances of genetic knowledge, diagnostic techniques, monitoring and treatment of this disease. In this review of the scientific literature, updates about molecular and genetic aspects of CFTR are approached, as well as the pathophysiology and diagnosis of CF. [ABSTRACT FROM AUTHOR]

Title: Early repolarization: from benign to sudden death La repolarización precoz es un hallazgo frecuente caracterizado por elevación del segmento ST, empastamiento al final del QRS en 2 o más derivadas electrocardiográficas contiguas. Durante años fue considerada benigna, pero actualmente observaciones de casos, estudios clínicos y electrofisiológicos sugieren un rol crítico en la patogénesis de la fibrilación ventricular idiopática. Estudios poblacionales establecieron asociación entre esta patente y el riesgo de muerte por eventos arrítmicos. La muerte súbita cardiaca es un problema de salud pública, anualmente causa alrededor de 350.000 muertes en Estados Unidos. Muchos casos están asociados a arritmias ventriculares, de los cuales 6-14% son en individuos sin cardiopatía estructural y está determinada por anormalidades genéticas que afectan los canales iónicos o idiopáticos como el síndrome de repolarización precoz y la fibrilación ventricular idiopática que generan el 10% de dichas muertes. La revisión aborda la fisiopatología de la RP, con el fin de comprender los mecanismos por los cuales es asociada a arritmias malignas. Además, para diferenciar este patrón de otros que también generan elevación del ST y dilucidar el enfoque y recomendaciones actuales para el diagnóstico y manejo. (DUAZARY 2013 No. 1, 41 - 50)AbstractEarly repolarization is a common finding characterized by ST segment elevation, QRS slurring end in 2 or more contiguous electrocardiographic derivative. For years he was considered benign, but at present observations of cases, clinical and electrophysiological studies suggest a critical role in the pathogenesis of idiopathic ventricular fibrillation. Population studies established association between this patent and risk of death from arrhythmic events. Sudden cardiac death is a public health problem, annually causes about 350,000 deaths in America. Many cases are associated with ventricular arrhythmias, which are 6-14% in patients without structural heart disease and is determined by genetic abnormalities that affect ion channels or idiopathic as early repolarization syndrome and idiopathic ventricular fibrillation that generate 10% of these deaths. The review addresses the pathophysiology of RP, in order to understand the mechanisms by which it is associated with malignant arrhythmias. In addition, to differentiate this pattern of others who also produce ST elevation and clarify the approach and current recommendations for diagnosis and management. Keywords: Arrhythmias; cardiac; channelopathies; sudden; cardiac; death. Fuente: Mesh Database

Brugada syndrome is included among the channelopathies, first described in 1992. It is characterized by the presence of syncope, ventricular arrhythmias and sudden death in patients with a structurally healthy heart and an electrocardiographic pattern characterized by ST segment elevation from V1 to V3 leads and morphology of the right bundle branch block. [ABSTRACT FROM AUTHOR]

OBJETIVO: Discutir alguns dos aspectos genéticos clínicos e moleculares de novas descobertas no campo da genética das epilepsias e relacioná-las com indicações importantes para a melhor compreensão dos mecanismos subjacentes a algumas síndromes epilépticas monogênicas. FONTES DOS DADOS: Muitos desenhos de estudo foram usados através dos anos, incluindo estudos familiares e pesquisas genético-epidemiológicas. Mais recentemente, estudos de genética molecular e estratégias de descoberta de genes foram usados para revelar os mecanismos moleculares e celulares envolvidas em diversas síndromes epilépticas mendelianas. SÍNTESE DOS DADOS: A importância dos fatores genéticos em epilepsias é reconhecida desde os tempos de Hipócrates. CONCLUSÕES: Nos tempos modernos, muitos estudos demonstraram a existência de um componente hereditário nas epilepsias generalizadas e focais. Nas últimas duas décadas, diversas famílias segregando diferentes tipos de epilepsia monogência foram descritas, o que levou ao progresso na caracterização dos defeitos moleculares nestas famílias.OBJECTIVES: To discuss some of the clinical and molecular genetic aspects of new discoveries in the field of the genetics of the epilepsies and relate these with relevant clues for a better understanding of the mechanisms underlying some of the monogenic epilepsy syndromes. SOURCES: Many study designs have been performed over the years and these include family-based studies, genetic-epidemiology surveys. More recently, molecular genetics studies and gene discovery strategies have been used to unravel the molecular and cell mechanisms involved in several Mendelian epilepsy syndromes. SUMMARY OF THE FINDINGS: The importance of genetic factors in the epilepsies has been recognized since the time of Hippocrates. CONCLUSIONS: In the modern era, many studies have demonstrated the existence of an inherited component in the generalized and focal epilepsies and in the last 2 decades a number of families segregating different types of monogenic epilepsy have been described, leading to progresses in the characterization of the molecular defects in these families.

Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The long QT syndrome can be congenital or acquired; if it is associate to congenital deafness is the Jervell and Lange-Nielsen syndrome and if there is not deafness is known as Romano-Ward syndrome. This report is a revision of the molecular mechanisms implicated and its correlation with the clinic, the epidemiological risk factors associated: congenital deafness, feminine sex, early age of presentation, antecedent of syncope, duration of the QTc greater to 500 ms and torsades des pointes. Mortality has been diminished to less of 10% by the used β blocking, the implantation of pacemaker or using an automatic cardioverter-defibrillator. Finally an management algorithm is presented. [ABSTRACT FROM AUTHOR]

A novel SCN5A mutation was found in a child with congenital sick sinus disease, a Brugada-like electrocardiogram and recurrent aborted sudden death. The mutation (L1821fs/10) is a 4 base pair deletion (TCTG) at position 5464-5467 in exon 28 of the gene. The novel mutation is predicted to produce a frameshift leading to a premature stop codon after ten missense amino acids upstream that did not allow the generation of the complete protein, and probably producing an incomplete and therefore non functional protein. The resulting alteration in sodium current could explain the clinical phenotype observed in this patient. [ABSTRACT FROM AUTHOR]

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

El síndrome de QT corto es una canalopatía hereditaria caracterizada por un anormal acortamiento del intervalo QT (IQT), por un riesgo incrementado para el desarrollo de fibrilación auricular y/o arritmias ventriculares malignas y por la ausencia de cardiopatía estructural. Es una enfermedad heterogénea y se han identificado mutaciones en los genes codificadores de los canales de potasio y de calcio. Un incremento en las corrientes neta de salida de potasio o una disminución en al entrada de calcio favorecen el acortamiento heterogéneo de la repolarización ventricular. La marcada abreviación de la longitud de onda del circuito es un factor arritmogénico adicional. El curso clínico oscila desde formas asintomáticas hasta fibrilación auricular paroxística o permanente, síncope, arritmias ventriculares y muerte súbita. El electrocardiograma muestra IQT 220-360 ms, ondas T altas y puntiagudas, prolongación del intervalo pico-final de la onda T e IQT rígido. Es poco frecuente, pero importante por el riesgo elevado de muerte súbita, que en ocasiones puede ser el debut. Puede presentarse solapado al síndrome de Brugada y a la repolarización precoz. El diagnóstico precisa excluir las causas secundarias que acortan el IQT y la no identificación de una mutación no lo excluye. La estimulación eléctrica programada tiene pobre valor diagnóstico y pronóstico. En los sujetos con muerte súbita abortada o con arritmias ventriculares con compromiso hemodinámica, el desfibrilador es la terapéutica de elección. La quinidina es una opción terapéutica alternativa.The short QT syndrome is an inherited channelopathy characterized by an abnormal shortening of the QT interval (QTI), an increased risk of developing atrial fibrillation and/or malignant ventricular arrhythmias, and the absence of structural heart disease. It is a heterogeneous disease and mutations have been identified in the genes encoding potassium and calcium channels. An increase in potassium net efflux or a decrease in calcium influx facilitate the heterogeneous shortening of ventricular repolarization. A marked shortening of the wavelength of the circuit is an additional arrhythmogenic factor. The clinical course ranges from asymptomatic forms to paroxysmal or permanent atrial fibrillation, syncope, ventricular arrhythmias and sudden death. The ECG shows QTI 220-360 ms, high and sharp T waves, prolongation of the final peak interval of the T wave, and QTI drive. It is a rare disease whose importance lies in the high risk of sudden death, which may sometimes be its debut. It may overlap Brugada syndrome and early repolarization. Diagnosis requires excluding secondary causes of QTI shortening. Failure to identify a mutation does not exclude it. Programmed electrical stimulation has a low diagnostic and prognostic value. Defibrillation is the therapy of choice for patients with aborted sudden death or ventricular arrhythmias with hemodynamic compromise. Quinidine is an alternative therapeutic option.

La taquicardia ventricular polimórfica catecolaminérgica es una canalopatía caracterizada por la inducción de arritmias ventriculares polimórficas en presencia de catecolaminas. Deberá sospecharse en todo paciente joven, en especial niño o adolescente, que presente síncopes relacionados con el ejercicio físico o el estrés emocional, que no tenga cardiopatía estructural y que su electrocardiograma muestre un intervalo QT normal. Es poco frecuente, pero importante por el riesgo elevado de muerte súbita, que en ocasiones puede ser el debut. Las arritmias ventriculares son polimórficas o bidireccionales, fácilmente inducibles con el ejercicio físico y con infusión de isuprel, tienen un umbral predecible y una complejidad progresiva. Los antecedentes patológicos familiares de muerte súbita se observan entre el 30 y 40 % de los pacientes. Se han identificado 2 mutaciones genéticas causantes de la entidad (receptores de rianodina 2, con herencia autosómica dominante y calsecuestrina 2, con herencia autosómica reseciva); pero solo entre 50-55 % de los enfermos se ha testado una mutación causal. Las mutaciones condicionan la fuga de Ca2+ del retículo sarcoplásmico que favorece el origen de posdespolarizaciones tardías, las que inducirán la actividad ectópica ventricular. Los â-bloqueadores son el tratamiento de elección. El desfibrilador automático implantable está indicado en los pacientes recuperados de un evento de muerte súbita y en los sintomáticos a pesar del tratamiento farmacológico. La denervación simpática cardíaca izquierda, el verapamilo, la flecainida y la propafenona, son opciones alternativas en los sintomáticos a pesar del uso de β-bloqueadores.Catecholaminergic polymorphic ventricular tachycardia is a channelopathy characterized by the induction of polymorphic ventricular arrhythmias in the presence of catecholamines. It should be suspected in any young patient, especially a child or adolescent, presenting with syncope associated with physical exercise or emotional stress, with no structural heart disease and an ECG showing a normal QT interval. It is a rare disease, its importance lying in the high risk of sudden death, which may sometimes be its debut. Ventricular arrhythmias may be polymorphic or bidirectional. They are highly inducible by physical exercise and Isuprel infusion, their threshold is predictable and their complexity progressive. A family history of sudden death is reported in 30 to 40 % of patients. Two genetic mutations have been identified as causes of the condition (ryanodine receptor 2 with autosomal dominant inheritance and calsequestrin 2, with autosomal recessive inheritance). However, a causal mutation has been found in only 50-55 % of patients. Mutations influence sarcoplasmic reticulum Ca 2+ leak, facilitating the appearance of late post-depolarisations, which will in turn induce ventricular ectopic activity. Beta-blockers are the treatment of choice. The automatic implantable defibrillator is indicated in patients recovered from a sudden death event and in those who remain symptomatic despite medical therapy. Left cardiac sympathetic denervation, verapamil, flecainide and propafenone are alternative options for patients who remain symptomatic despite the use of beta-blockers.

In up to one-third of cases of sudden death, the medico-legal autopsy finding is inconclusive, and the option to perform a molecular autopsy is covered in international guidelines. The importance of postmortem genetic testing lies in its ability to identify hereditary diseases, often those with an autosomal dominant transmission pattern, and, through consultations and screening of relatives, to identify family members with a pathogenic mutation, who are often asymptomatic, providing an opportunity to change the course of their lives. The authors present three clinical cases that highlight the importance of postmortem genetic studies and family studies, as well as the integration of the data obtained in a cardiology consultation, which may be for arrhythmology, coronary disease or cardiomyopathy, depending on the specific condition. This could modify the course of the disease in many relatives., (Copyright © 2019. Publicado por Elsevier España, S.L.U.)

The authors report the first catheter ablation of Brugada syndrome in the literature using the Rhythmia™ mapping system. Learning points include: (1) low voltage areas can be documented while mapping in some individuals, suggesting that Brugada syndrome may not be a pure ion channel disorder; (2) typical long fractionated potentials can also be identified in the endocardium, supporting the need to map the endocardium in all Brugada patients requiring ablation; (3) disappearance of the typical coved pattern following ablation does not necessarily predict cure, as the patient we present experienced ventricular fibrillation recurrence a few months later., (Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.)

Sudden unexplained death is defined by death without a conclusive diagnosis after autopsy and it is responsible for a large percentage of sudden deaths. The progressive interaction between genetics and forensics in post-mortem studies has identified inheritable alterations responsible for pathologies associated with arrhythmic sudden death. The genetic diagnosis of the deceased enables the undertaking of preventive measures in family members, many of them asymptomatic but at risk. The implications of this multidisciplinary translational medical approach are complex, requiring the dedication of a specialized team., (Copyright © 2013 Elsevier España, S.L. All rights reserved.)