Síndrome de QT largo congénito y bradicardia fetal: la importancia del diagnóstico / Congenital long QT syndrome and fetal bradycardia: the importance of the diagnosis

Antecedentes: El síndrome de QT largo es una canalopatía que afecta a la repolarización ventricular y aumenta el riesgo de sufrir arritmias ventriculares graves. Puede ser congénito o adquirido, y es una causa conocida de muerte súbita. Caso clínico: Gestante primigesta, de 28 años, sin antecedentes de interés. En ecografías prenatales se objetivó en el feto bradicardia sinusal mantenida desde la semana 28, sin repercusión hemodinámica, que persistió hasta la finalización de la gestación (semana 37+3). Al nacimiento se realizaron electrocardiogramas seriados que mostraron alteraciones en la repolarización con alargamiento del intervalo QT corregido. Se realizó estudio genético que confirmó síndrome de QT largo tipo 1 y se inició tratamiento oral con beta-bloqueantes, con buena respuesta. Conclusiones: El síndrome de QT largo suele diagnosticarse posnatalmente. Es importante conocer sus características clínicas prenatales para poder establecer un diagnóstico precoz y minimizar así el riesgo de muerte súbita de estos pacientes.

Background: Long QT syndrome is a channelopathy that affects ventricular repolarization and increases the risk of severe ventricular arrhythmias. It can be congenital or acquired, and is a known cause of sudden cardiac death. Case report: A 28-year-old primigravida with no significant medical history. Prenatal ultrasounds revealed sustained fetal sinus bradycardia from week 28, without hemodynamic repercussion, which persisted until the end of gestation (at 37+3 weeks). Serial electrocardiograms were performed after birth, showing repolarization abnormalities with prolonged corrected QT interval. A genetic study confirmed long QT syndrome type 1, and oral treatment with beta-blockers was initiated, showing a positive response. Conclusions: Long QT syndrome is often diagnosed postnatally. It is important to be aware of his prenatal clinical features in order to establish an early diagnosis and minimize the risk of sudden death in these patients.

Aborted sudden cardiac death in a young patient with epilepsy and the Gorlin Goltz syndrome.

Epilepsy is one of the most common chronical neurological conditions affecting over 50 million people worldwide. In addition to the stigma and discrimination, individuals with epilepsy suffer from a nearly three-fold increased risk of premature death compared to the general population. Although these premature deaths occur due to multiple causes, sudden unexpected death in epilepsy (SUDEP) still challenges neurologists and clinicians dealing with individuals with epilepsy. Recently, an increased interest in cardiac outcomes related to acute seizures and chronic epilepsy resulted in the groundbreaking development of the "epileptic heart" concept, and sudden cardiac death in individuals with epilepsy, which is 4.5 times as frequent as SUDEP according to some observational data, has gained more attention. As we gather information and learn about possible comorbidities and consequences of seizures and/or chronic epilepsy, we present a clinical case of a young patient with an unusual association of epilepsy, the Gorlin Goltz syndrome, and a cardiac fibroma with Wolf-Parkinson-White (WPW), who had multiple aborted cardiac arrests. Diagnostic challenges and multiple possible causes of sudden cardiac death in this single patient report are discussed.

Sudden pediatric death unveiling pulmonary arteriovenous malformations.

Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are asymptomatic, but life-threatening complications like pulmonary hemorrhage, brain abscesses, and paradoxical emboli can emerge, so prompt diagnosis and treatment are crucial. We report a case of sudden pediatric death in a two-year-old female with no past medical history. Initial vomiting and fast deterioration resulted in a sudden cardiac arrest. The postmortem examination found histological evidence of consistent, extensive lung damage. The absence of the characteristic symptoms made for some challenges when it came to diagnosis, showing precisely that in early life, you could well have many difficulties in catching PAVMs. This case highlights the need to take PAVMs into account as a potential cause of sudden death, particularly when there are no conspicuous symptoms. Awareness among forensic pathologists and consideration of genetic analysis for HHT in such cases is crucial for accurate diagnosis and management.

Análisis de la la muerte súbita cardíaca por prolapso de la válvula mitral en una autopsia de una mujer sin antecedente de cardiopatía. Reporte de caso / Analysis of sudden cardiac death due to mitral valve prolapse in an autopsy of a woman with no history of heart disease. Case report

Resumen En Costa Rica, el Reglamento de la Autopsia Hospitalaria y Médico Legal establece que la autopsia médico legal es obligatoria para toda muerte súbita. La patología cardíaca es responsable aproximadamente del 80 % de las muertes súbitas que requieren una autopsia forense; el prolapso de la válvula mitral (degeneración mixomatosa de la válvula mitral) es una de las formas más comunes de valvulopatía cardíaca, es relativamente común (2%-3% de la población general), y a menudo se considera benigno, la tasa anual de muerte cardíaca súbita (MSC) en individuos con MVP (0,2%-0,4% /año) es aproximadamente el doble que el observado en la población general (0,1%-0,2% año).

Abstract In Costa Rica, the Hospital and Legal Autopsy Regulations establish that a legal medical autopsy is mandatory for all sudden deaths. Cardiac pathology is responsible for approximately 80% of sudden deaths requiring a forensic autopsy; Mitral valve prolapse (myxomatous mitral valve degeneration) is one of the most common forms of heart valve disease, is relatively common (2%-3% of the general population), and is often considered benign, the annual rate of Sudden cardiac death (SCD) in individuals with MVP (0.2%-0.4%/year) is approximately twice that observed in the general population (0.1%-0.2%/year).

Preditores de Terapias Apropriadas e Óbito em Pacientes com Cardiodesfibrilador Implantável e Cardiopatia Chagásica Crônica / Predictors of Appropriate Therapies and Death in Patients with Implantable Cardioverter-Defibrillator and Chronic Chagas Heart Disease

Resumo Fundamento: Existem poucos estudos retrospectivos e prospectivos sobre cardiodesfibrilador implantável (CDI) na prevenção primária e secundária de morte súbita na cardiopatia chagásica crônica (CCC). Objetivos: Descrever a evolução a longo prazo dos portadores de CCC com CDI e identificar e analisar os preditores de mortalidade e de terapia apropriada do dispositivo nessa população. Métodos: Trata-se de um estudo prospectivo histórico com 117 pacientes portadores de CDI e CCC. Dispositivos foram implantados de janeiro de 2003 a dezembro de 2021. Fatores preditores de terapias apropriadas e mortalidade a longo prazo foram identificados e analisados. O nível de significância estatística é de p < 0,05. Resultados: Pacientes (n = 117) tiveram mediana de seguimento de 61 meses (25 a 121 meses), sendo o gênero masculino (74%) predominante e a mediana de idade de 55 anos (48 a 64 anos). Houve 43,6% de choques apropriados, 26,5% de estimulação cardíaca antitaquicardia (ATP) e 51% de terapias apropriadas. Durante o seguimento, 46 pacientes (39,7%) foram a óbito. A mortalidade foi de 6,2% pessoas-ano (intervalo de confiança [IC] 95%: 4,6 a 8,3), com 2 mortes súbitas durante o seguimento. A prevenção secundária (hazard ratio [HR] 2.1; IC 95%: 1,1 a 4,3; p = 0,029) e a fração de ejeção menor que 30% (HR 1.8; IC 95%: 1,1 a 3,1; p < 0,05) foram preditores de terapias apropriadas. Escore de Rassi intermediário apresentou uma forte associação com ocorrência de ATP isoladamente (p = 0,015). A classe funcional IV (p = 0,007), fração de ejeção do ventrículo esquerdo < 30 (p = 0,010) e a idade maior que 75 anos (p = 0,042) foram preditores de mortalidade total. Conclusão: Os desfibriladores na CCC apresentaram elevada incidência de acionamento apropriado especialmente naqueles pacientes de prevenção secundária, fração de ejeção do ventrículo esquerdo baixa e escore de Rassi intermediário. Os pacientes com insuficiência cardíaca congestiva, classe funcional avançada e idade maior que 75 anos apresentaram elevada mortalidade.

Abstract Background: There are few retrospective and prospective studies on implantable cardioverter-defibrillators (ICD) in primary and secondary prevention of sudden death in chronic Chagas heart disease (CCHD). Objectives: To describe the long-term evolution of patients with CCHD and ICD and to identify and analyze predictors of mortality and appropriate device therapy in this population. Methods: This was a historical prospective study with 117 patients with ICD and CCHD. Devices were implanted from January 2003 to December 2021. Predictors of appropriate therapies and long-term mortality were identified and analyzed. The level of statistical significance was p < 0.05. Results: Patients (n = 117) had a median follow-up of 61 months (25 to 121 months); they were predominantly male (74%), with a median age of 55 years (48 to 64 years). There were 43.6% appropriate shocks, 26.5% antitachycardia pacing (ATP), and 51% appropriate therapies. During follow-up, 46 patients (39.7%) died. Mortality was 6.2% person-years (95% confidence interval [CI]: 4.6 to 8.3), with 2 sudden deaths during follow-up. Secondary prevention (hazard ratio [HR] 2.1; 95% CI: 1.1 to 4.3; p = 0.029) and ejection fraction less than 30% (HR 1.8; 95% CI: 1.1 to 3.1; p < 0.05) were predictors of appropriate therapies. Intermediate Rassi score showed a strong association with the occurrence of ATP alone (p = 0.015). Functional class IV (p = 0.007), left ventricular ejection fraction < 30 (p = 0.010), and age above 75 years (p = 0.042) were predictors of total mortality. Conclusion: ICDs in CCHD showed a high incidence of appropriate activation, especially in patients with secondary prevention, low left ventricular ejection fraction, and intermediate Rassi score. Patients with congestive heart failure, elevated functional class, and age over 75 years showed elevated mortality.

Sudden pediatric death unveiling pulmonary arteriovenous malformations

ABSTRACT Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are asymptomatic, but life-threatening complications like pulmonary hemorrhage, brain abscesses, and paradoxical emboli can emerge, so prompt diagnosis and treatment are crucial. We report a case of sudden pediatric death in a two-year-old female with no past medical history. Initial vomiting and fast deterioration resulted in a sudden cardiac arrest. The postmortem examination found histological evidence of consistent, extensive lung damage. The absence of the characteristic symptoms made for some challenges when it came to diagnosis, showing precisely that in early life, you could well have many difficulties in catching PAVMs. This case highlights the need to take PAVMs into account as a potential cause of sudden death, particularly when there are no conspicuous symptoms. Awareness among forensic pathologists and consideration of genetic analysis for HHT in such cases is crucial for accurate diagnosis and management.

Hemorragia Intracerebral Imprevisible en un Hombre Joven: La Importancia de la Tomografía computarizada craneal post-mortem / Unpredictable Intracerebral Hemorrhage in a Young Male: The Importance of Post-Mortem Cranial Computed Tomography

La muerte súbita es aquella que ocurre dentro de las 24 horas posteriores al inicio de los síntomas y se caracteriza por ser clínicamente inexplicable, inesperada y repentina. Debido a la naturaleza de la muerte súbita, no es posible llegar a un diagnóstico preciso sin una autopsia. En esta comunicación breve, evaluaremos el caso de un empleado de crucero de 33 años, sin historial médico/farmacológico previo, el cual falleció súbitamente mientras reposaba en su camarote. Debido a las sospechas iniciales de una posible muerte causada por una sobredosis de cocaína, se le realizó un panel toxicológico abarcador el cual resultó negativo. Empero, una tomografía computarizada (TC) craneal sin contraste revirtió la hipótesis inicial y la autopsia neuropatológica -sorpresivamente- confirmó que la verdadera causa de muerte fue la ruptura de un aneurisma sacular desconocido en el polígono de Willis.

Sudden death occurs within 24 hours after the onset of symptoms and is characterized by being clinically inexplicable, sudden, and unexpected. Due to the nature of sudden death, it is not possible an accurate diagnosis without performing an autopsy. In this brief communication, we will evaluate the case of a 33-year-old cruise employee, with no prior medical/pharmacological history, who suddenly died while resting in his cabin. Due to initial suspicions of a possible cocaine overdose death, a comprehensive toxicology panel was performed, although yielding a negative result. A cranial computed tomography without contrast reversed the initial hypothesis and the neuropathological autopsy -surprisingly- confirmed that the true cause of death was the rupture of an unknown saccular aneurysm in the Circle of Willis.

Genome-Wide Informative Microsatellite Markers and Population Structure of Fusarium virguliforme from Argentina and the USA.

Soybean sudden death syndrome (SDS) is a destructive disease that causes substantial yield losses in South and North America. Whereas four Fusarium species were identified as the causal agents, F. virguliforme is the primary SDS-causing pathogen in North America and it also contributes substantially to SDS in Argentina. In this study, we comparatively analyzed genome assemblies of four F. virguliforme strains and identified 29 informative microsatellite markers. Sixteen of the 29 markers were used to investigate the genetic diversity and population structure of this pathogen in a collection of 90 strains from Argentina and the USA. A total of 37 multilocus genotypes (MLGs) were identified, including 10 MLGs in Argentina and 26 in the USA. Only MLG2, the most dominant MLG, was found in both countries. Analyses with three different approaches showed that these MLGs could be grouped into three clusters. Cluster IA consisting of four MLGs exclusively from the USA has much higher genetic diversity than the other two clusters, suggesting that it may be the ancestral cluster although additional data are necessary to support this hypothesis. Clusters IB and II consisted of 13 and 21 MLGs, respectively. MLGs belonging to these two clusters were present in all four sampled states in Argentina and all five sampled states in the USA.

Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual.

Cardiac pathologies are among the most frequent causes of death worldwide. Regarding cardiovascular deaths, it is estimated that 5 million cases are caused by sudden cardiac death (SCD) annually. The primary cause of SCD is ventricular arrhythmias. Genomic studies have provided pathogenic, likely pathogenic, and variants of uncertain significance that may predispose individuals to cardiac causes of sudden death. In this study, we describe the case of a 43-year-old individual who experienced an episode of aborted SCD. An implantable cardioverter defibrillator was placed to prevent further SCD episodes. The diagnosis was ventricular fibrillation. Genomic analysis revealed some variants in the MYPN (pathogenic), GCKR (likely pathogenic), TTN (variant of uncertain significance), SCN5A (variant of uncertain significance), MYO6 (variant of uncertain significance), and ELN (variant of uncertain significance) genes, which could be associated with SCD episodes. In addition, a protein-protein interaction network was obtained, with proteins related to ventricular arrhythmia and the biological processes involved. Therefore, this study identified genetic variants that may be associated with and trigger SCD in the individual. Moreover, genetic variants of uncertain significance, which have not been reported, could contribute to the genetic basis of the disease.

Efecto de los fármacos en la prolongación del QT y la aparición de muerte súbita en la COVID-19 / Effect of Drugs on QT Prolongation and Sudden Death in COVID-19

Introducción: Las evidencias científicas han demostrado que durante el período pandémico por la COVID-19 ha existido un incremento de la incidencia de muerte súbita cardiovascular, proporcional al incremento de los casos y a la letalidad por la enfermedad. Objetivos: Compilar información sobre los fármacos empleados en el tratamiento de la COVID-19 y sus posibles efectos en la prolongación del intervalo QT y la aparición de muerte súbita. Métodos: Se realizó una búsqueda de información a partir de las bases de datos PubMed, Medline y SciELO, en los idiomas español e inglés en el período de enero de 2020 a enero de 2023. Resultados: Los hallazgos más recientes sugieren que los factores relacionados con el tratamiento médico del paciente para sus enfermedades cardiovasculares previas, el empleo concomitante de drogas para otras comorbilidades, el ensayo de nuevas drogas que se investigan en la actualidad para el tratamiento de la enfermedad y el uso inadecuado de fármacos en complicaciones graves por la COVID-19, pueden ocasionar prolongación del intervalo QT y arritmias ventriculares tipo torsades de pointes, lo que puede conllevar a la aparición de muerte súbita. Conclusiones: Ha sido demostrado el efecto deletéreo de los fármacos en el tratamiento de la COVID-19 y sus posibles asociaciones a la terapéutica del paciente, en la prolongación del tiempo de repolarización ventricular cardíaca, cuya traducción eléctrica es un intervalo QT prolongado y su contribución a la génesis de arritmias malignas potencialmente fatales capaces de desencadenar un paro cardíaco y evolucionar a la muerte súbita(AU)

Scientific evidence has shown an increase in the incidence of sudden cardiovascular death during the COVID-19 pandemic period. This has been proportional to the increase in cases and mortality from the disease. Direct and indirect injury to the myocardium and vascular system allow to partially explain the statistics. Among the factors related to the medical treatment of the patient for previous cardiovascular diseases, it is the concomitant use of drugs for other comorbidities. The trial of new drugs for the treatment of this condition and the inappropriate use of drugs in serious complications from COVID-19 are currently being investigated. These can cause QT prolongation and torsades de pointes ventricular arrhythmias, which can lead to sudden death. Monitoring the QT interval is recommended, before and during treatment, in patients who come to the emergency room with a clinical condition suggestive of COVID-19. Additionally, modifiable factors favoring its prolongation should be evaluated. Decision-making in the application of therapeutic protocols in patients with COVID-19 with prolonged QTc at baseline, or with increased QTc after starting treatment, must go through the analysis of the risk/benefit ratio defined by a multi- and interdisciplinary team(AU)

Síndrome de barlow: causa olvidada de miocardiopatía dilatada y muerte súbita / Barlow syndrome: A rare etiology of sudden death

Resumen Se presenta el caso de una mujer de 60 años, con an tecedente de prolapso de la válvula mitral, que consultó por disnea y palpitaciones de 2 semanas de evolución hasta clase funcional IV. En el electrocardiograma de ingreso se evidenció ritmo de fibrilación auricular de moderada respuesta con extrasístoles ventriculares fre cuentes. Se realizó ecocardiograma transtorácico donde se observó prolapso de la válvula mitral con deterioro grave de la función ventricular. Se diagnosticó síndrome de Barlow. La paciente intercurrió durante la internación con tres episodios de paro cardiorrespiratorio que revir tieron con maniobras de reanimación cardiopulmonar avanzada. Durante la internación se realizó balance negativo, se revirtió a ritmo sinusal y se colocó cardio desfibrilador implantable en prevención secundaria. En el seguimiento persiste con deterioro grave de la función ventricular. Destacamos el síndrome de Barlow como una causa poco frecuente de muerte súbita y su asociación con miocardiopatía dilatada.

Abstract We present the case of a 60-year-old woman, with a history of mitral valve prolapse, who consulted for dyspnea and palpitations of 2 weeks of evolution up to functional class IV. The admission electrocardio gram showed a moderately responsive atrial fibrilla tion rhythm with frequent ventricular extra systoles. A transthoracic echocardiogram was performed which showed mitral valve prolapse with severe impairment of ventricular function. Barlow syndrome was diagnosed. During hospitalization, the patient presented three epi sodes of cardiorespiratory arrest that were reversed with advanced cardiopulmonary resuscitation maneuvers. During admission, a negative balance was performed, sinus rhythm was reverted and an implantable auto matic defibrillator was placed in secondary prevention. During follow-up, severe deterioration of ventricular function persisted. We highlight Barlow syndrome as a rare cause of sudden death and its association with dilated cardiomyopathy.

Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients.

The objective of this work was to identify genetic variants in Mexican patients diagnosed with hypertrophic cardiomyopathy (HCM). According to world literature, the genes mainly involved are MHY7 and MYBPC3, although variants have been found in more than 50 genes related to heart disease and sudden death, and to our knowledge there are no studies in the Mexican population. These variants are reported and classified in the ClinVar (PubMed) database and only some of them are recognized in the Online Mendelian Information in Men (OMIM). The present study included 37 patients, with 14 sporadic cases and 6 familial cases, with a total of 21 index cases. Next-generation sequencing was performed on a predesigned panel of 168 genes associated with heart disease and sudden death. The sequencing analysis revealed twelve (57%) pathogenic or probably pathogenic variants, 9 of them were familial cases, managing to identify pathogenic variants in relatives without symptoms of the disease. At the molecular level, nine of the 12 variants (75%) were single nucleotide changes, 2 (17%) deletions, and 1 (8%) splice site alteration. The genes involved were MYH7 (25%), MYBPC3 (25%) and ACADVL, KCNE1, TNNI3, TPM1, SLC22A5, TNNT2 (8%). In conclusion; we found five variants that were not previously reported in public databases. It is important to follow up on the reclassification of variants, especially those of uncertain significance in patients with symptoms of the condition. All patients included in the study and their relatives received family genetic counseling.

[Barlow syndrome: A rare etiology of sudden death]. / Síndrome de Barlow: causa olvidada de miocardiopatía dilatada y muerte súbita.

We present the case of a 60-year-old woman, with a history of mitral valve prolapse, who consulted for dyspnea and palpitations of 2 weeks of evolution up to functional class IV. The admission electrocardiogram showed a moderately responsive atrial fibrillation rhythm with frequent ventricular extra systoles. A transthoracic echocardiogram was performed which showed mitral valve prolapse with severe impairment of ventricular function. Barlow syndrome was diagnosed. During hospitalization, the patient presented three episodes of cardiorespiratory arrest that were reversed with advanced cardiopulmonary resuscitation maneuvers. During admission, a negative balance was performed, sinus rhythm was reverted and an implantable automatic defibrillator was placed in secondary prevention. During follow-up, severe deterioration of ventricular function persisted. We highlight Barlow syndrome as a rare cause of sudden death and its association with dilated cardiomyopathy.

Se presenta el caso de una mujer de 60 años, con antecedente de prolapso de la válvula mitral, que consultó por disnea y palpitaciones de 2 semanas de evolución hasta clase funcional IV. En el electrocardiograma de ingreso se evidenció ritmo de fibrilación auricular de moderada respuesta con extrasístoles ventriculares frecuentes. Se realizó ecocardiograma transtorácico donde se observó prolapso de la válvula mitral con deterioro grave de la función ventricular. Se diagnosticó síndrome de Barlow. La paciente intercurrió durante la internación con tres episodios de paro cardiorrespiratorio que revirtieron con maniobras de reanimación cardiopulmonar avanzada. Durante la internación se realizó balance negativo, se revirtió a ritmo sinusal y se colocó cardiodesfibrilador implantable en prevención secundaria. En el seguimiento persiste con deterioro grave de la función ventricular. Destacamos el síndrome de Barlow como una causa poco frecuente de muerte súbita y su asociación con miocardiopatía dilatada.

Magnesium (Mg2+) Deficiency, Not Well-Recognized Non-Infectious Pandemic: Origin and Consequence of Chronic Inflammatory and Oxidative Stress-Associated Diseases.

Magnesium (Mg2+) is an essential mineral nutrient, necessary for many biochemical reactions in the human body, including energy metabolism, protein and DNA synthesis, maintenance of the electrical potential of nervous and cardiac tissues, control of blood glucose, and regulation of blood pressure. However, currently, the world population suffers from a severe problem because the consumption of Mg2+ in the diet is deficient and generalized in the populations. Mg2+ deficiency causes oxidative stress (OS) due to the increase in reactive oxygen species (ROS) that originate from mitochondrial dysfunction, activation of the renin-angiotensin-aldosterone system (RAAS), and abnormal regulation of calcium homeostasis. In addition, Mg2+ deficiency also causes inflammation by increasing the production of proinflammatory molecules such as interleukin (IL)-1, IL-6, and tumor necrosis factor-alpha (TNF-α), which in turn can exacerbate the production of ROS. The combination of inflammation and OS induced by Mg2+ deficiency increases the risk of developing chronic diseases. This review describes Mg2+ deficiency, its complications, and its relationship with OS and chronic inflammatory diseases. In addition, the importance of increasing the intake of Mg2+ throughout the world is highlighted.

Propuesta para evaluación preparticipativa y seguimiento en la prescripción del ejercicio y el deporte en el entrenamiento de resistencia / A proposal for preparticipation evaluation and follow up in the prescription of exercise and sports for resistance training

Resumen El ejercicio mejora la calidad y expectativa de vida y sus beneficios superan los riesgos asociados. Sin embargo, los atletas están expuestos al riesgo de muerte cardíaca súbita, cuya prevalencia es mayor que en personas sedentarias secundario a enfermedad cardíaca silente. La evaluación preparticipativa difiere en todos los países y representa un desafío para el médico al momento de tomar decisiones para considerar apta alguna persona para la práctica de ejercicio o deporte. Existen riesgos adicionales asociados a la práctica del entrenamiento de resistencia secundario a las adaptaciones cardiovasculares generadas, como el remodelamiento cardíaco, el cual puede llegar a ser patológico e incrementar el riesgo de arritmias y conducir así a una muerte cardíaca súbita. El objetivo principal de este artículo es proponer una evaluación preparticipativa en diferentes grupos etarios con base en la evidencia actual de la literatura para detectar y prevenir enfermedades cardiovasculares que conduzcan a muerte cardíaca súbita en el atleta durante su práctica deportiva.

Abstract Exercise improves quality of life and life expectancy, and its benefits outweigh its associated risks. However, athletes are at risk for sudden cardiac death, which occurs more frequently in them than in sedentary people, secondary to silent heart disease. Preparticipation evaluation varies by country and is a challenge for physicians in deciding whether to clear an individual for exercise or sports. Resistance training carries additional risks secondary to the cardiovascular adaptations it causes, such as cardiac remodeling, which may become pathological and increase the risk of arrhythmias, thus leading to sudden cardiac death. The main objective of this article is to propose a preparticipation evaluation in different age groups, based on current evidence in the literature for detecting and preventing cardiovascular diseases which can lead to sudden cardiac death in an athlete during sports practice.

Fatores associados ao conhecimento das mães sobre a Síndrome da Morte Súbita do Lactente / Factors Associated with Mothers' Knowledge about Sudden Infant Death Syndrome

A Síndrome da Morte Súbita do Lactente é definida como a morte de qualquer lactente com menos de um ano de idade, sendo a posição de dormir, em posição prona, é o mais importante fator de risco. Assim, a divulgação maciça dos fatores de risco para essa síndrome é fundamental para que principalmente as mães saibam seus fatores e consigam evitar esse acidente. Dessa forma, o objetivo desse estudo foi verificar o conhecimento das mães sobre os fatores de risco e de proteção sobre a síndrome da morte súbita do lactente e sua associação às condições socioeconômicas e demográficas. Participaram 502 mães de crianças que estiveram presentes na vacinação da poliomielite. Foram coletadas informações socioeconômicas, demográficas e o conhecimento das mães sobre os fatores associados à síndrome. Realizado teste qui-quadrado, para associar a variável dependente (número de acerto das mães) com as independentes (socioeconômicas e demográficas). Foi utilizada análise de variância (ANOVA) para idade, renda e grau de escolaridade e modelo linear generalizado, para exclusão social. A maioria das mães (72,34%) relatou já ter ouvido falar sobre a síndrome, porém, apenas 51,9% sabia descrevê-la. Houve associação entre menor acerto nas questões (p=0,0001) e nunca ter ouvido falar sobre a síndrome. Mães que não ouviram falar e acertaram menos questões moravam em bairros com índice de exclusão social pior do que as que já ouviram falar. Conclui-se que, mães que nunca ouviram falar sobre a síndrome e consequentemente acertaram menos questões, moravam em bairros com índice de exclusão social pior do que as que já ouviram falar sobre a síndrome. Entretanto, dentre todos os fatores relacionados à síndrome, a posição de dormir foi aquela com maior número de acerto pelas mães.

Sudden Infant Death Syndrome is defined as the death of any infant under one year of age, with a sleeping position, in the prone position, being the most important risk factor. Thus, the massive dissemination of risk factors for this syndrome is fundamental so that mothers, specifically, would know these factors and be able to avoid this accident. Therefore, the objective of this study was to verify the knowledge of mothers about the risk and protective factors for sudden infant death syndrome and its association with socioeconomic and demographic conditions. 502 mothers of children who went for a polio vaccination participated. Socioeconomic and demographic information and mothers' knowledge of factors associated with the syndrome were collected. A chi-square test was performed to associate the dependent variable (number of mothers' correct answers) with the independent variables (socioeconomic and demographic data). Analysis of variance (ANOVA) was used for age, income, and level of education and a generalized linear model for social exclusion. Most mothers (72.34%) reported having heard about the syndrome; however, only 51.9% knew how to describe it. There was an association between lower accuracy in the questions (p=0.0001) and never having heard about the syndrome. Mothers who had not heard about it and got fewer questions right lived in neighborhoods with a worse social exclusion index than those who had already heard about it. It is concluded that mothers who had never heard about the syndrome and consequently answered fewer questions correctly, lived in neighborhoods with a worse social exclusion index than those who had already heard about the syndrome. However, among all the factors related to the syndrome, the sleeping position was the one with the highest number of correct answers by the mothers.

Visual or computer-based measurements: Which is important for the interpretation of an athlete's electrocardiography?

SUMMARY OBJECTIVE: Preparticipation screening of athletes by electrocardiography is the most crucial step in determining sudden cardiac death risk factors. Several electrocardiography interpretation software programs have been developed for physicians practicing in this field. Our study aimed to assess cardiopoint sudden death screening module by comparing its findings with two cardiologists using Seattle and International criteria. METHODS: A total of 303 licensed national athletes (37% females) were enrolled. electrocardiographies were examined by the cardiopoint sudden death screening module using Seattle criteria and cardiologists. The consistency between cardiologists and software was compared, and the confidence assessment of the module was tested. RESULTS: With regard to Seattle criteria, moderate consistency was found between the cardiopoint sudden death screening module and the 1st (κ=0.41) and 2nd cardiologist (κ=0.59). Consistency between two cardiologists was moderate (κ=0.55). When we applied International criteria, there was moderate consistency between the module and the 1st cardiologist (κ=0.42), and good consistency between the module and the 2nd cardiologist (κ=0.63). Consistency between the two cardiologists was good (κ=0.62). CONCLUSION: The cardiopoint sudden death screening module had similar agreement with cardiologists based on both criteria. However, the software needs to be updated according to International criteria. Using computer-based measurements for preparticipation screening will help to save time and provide standardization of electrocardiography interpretation.

Síndrome de Brugada: 30 Anos de Aventura Científica / Brugada Syndrome: 30 Years of Scientific Ventures

Resumo Trinta anos atrás, uma nova síndrome clínico-eletrocardiográfica distinta foi descrita, agora conhecida como síndrome de Brugada (SBr). Típico para essa síndrome é o eletrocardiograma com supradesnivelamento do segmento ST nas derivações precordiais direitas. A apresentação clínica da doença é altamente variável: os pacientes podem permanecer completamente assintomáticos, mas também podem desenvolver episódios de síncope, fibrilação atrial (FA), síndrome do nódulo sinusal (SNS), distúrbios de condução, assistolia e fibrilação ventricular (FV). A doença é causada por mutações nos genes responsáveis pelo potencial de ação das células do coração. O gene mais frequentemente envolvido é o SCN5A, que controla a estrutura e função do canal de sódio cardíaco. A descrição dessa nova síndrome teve implicações muito positivas em todos os campos da medicina.

Abstract Thirty years ago, a distinctly new clinical-electrocardiographic syndrome was described, today known as Brugada Syndrome (BrS). Typical treatment for this type of syndrome is electrocardiography with ST-segment elevation in the direct precordial derivations. The clinical presentation of the disease is highly variable: the patients can remain completely asymptomatic, but they can also develop episodes of syncope, atrial fibrillation (AF), sinus node dysfunction (SNF), conduction disorders, asystole, and ventricular fibrillation (VF). This disease is caused by mutations in the genes responsible for the potential action of cardiac cells. The most commonly involved gene is SCN5A, which controls the structure and function of the heart's sodium channel. The description of this new syndrome has shown highly positive implications in all fields of medicine.