Aspecto da artéria coronária circunflexa retroaórtica por ecocardiografia transesofágica / Retroaortic circumflex coronary artery appearance by transesophageal echocardiography

O sinal RAC (retroaortic anomalous coronary ou artéria coronária anômala retroaórtica) é um achado desconhecido, descrito ao ecocardiograma transtorácico como uma estrutura tubular ecogênica, localizada na face atrial do sulco atrioventricular. Apresentamos um caso onde o sinal RAC se apresenta na ecocardiografia transesofágica (ETE). O conhecimento do sinal RAC e a avaliação com ETE aumentam a sensibilidade e a especificidade e conferem a oportunidade de avaliar características anatômicas de alto risco, importantes na avaliação do risco de morte súbita.(AU)

Síndrome de brugada en el paciente quirúrgico de urgencia. Reporte de caso / Brugada syndrome in the emergency surgical patient. Case report.

Introducción: El síndrome de Brugada es una condición genética rara, el diagnóstico se establece por un patrón electrocardiográfico en particular que se asocia a un riesgo de fibrilación ventricular y muerte súbita; Objetivo: Presentar un caso interesante de un paciente joven quién ingreso a quirófano con la impresión clínica de apendicitis aguda para realizar apendicetomía video laparoscópica. Durante el procedimiento presento múltiples episodios de taquiarritmias; desencadenando Fibrilación Ventricular de difícil manejo trans y post operatorio, debido a los medicamentos peri-operatorios, agresión quirúrgica y fiebre. Material y Métodos: Se documento y presentó un caso interesante; Presentación de Caso: Paciente masculino de 26ª, sin antecedentes médicos, con impresión clínica de apendicitis aguda ingresa a quirófano, durante el acto quirúrgico presenta arritmias, documentándose Fibrilación Ventricular con inestabilidad hemodinámica que amerito desfibrilación externa, revirtió a ritmo sinusal. Al concluir el acto quirúrgico, se realiza EKG, evidenciando supradesnivel del segmento ST en V1 y V2 e inversión de la onda T por lo que pasa a unidad de cuidados intensivos, sin reversión anestésica y con tubo orotraqueal. Paciente se monitoriza en UTI, se realiza EKG evidencia ritmo nodal. Se extuba a las 12h post operatorias y se traslada a cardiología en 48h donde establecen que paciente cursa con patrón de Brugada. Conclusiones: Con el creciente número de pacientes con trastornos de conducción heredadas que se presentan para cirugía no cardiaca que están en riesgo de muerte súbita; el éxito en el manejo peri, trans y post operatorio depende de un conocimiento detallado de estas condiciones. (AU)

Introduction: Brugada syndrome is a rare genetic condition, the diagnosis is established by a particular electrocardiographic pattern and is associated with a risk of ventricular fibrillation and sudden death; Objective: To present an interesting case of a young patient who enters the operating room with the clinical impression of acute appendicitis to perform laparoscopic appendectomy and that during the procedure present multiple episodes of tachyarrhythmias; triggering Ventricular Fibrillation, what causes him difficult trans and postoperative management, due to peri-operative medications, surgical aggression and fever. Material and Methods: An interesting case was documented and presented; Case Presentation: Male patient of 26 years old, without medical history, with clinical impression of acute appendicitis was admitted to the operating room, during the surgical act it presents arrhythmias, showing Ventricular Fibrillation with hemodynamic instability that warrants external defibrillation, reversed at sinus pace, EKG is performed showing elevation gain of the ST segment in V1 and V2 and inversion of the T wave at the end of the surgical act, so it goes to intensive care unit, without anesthetic reversal and with orotracheal tube. Patient is monitored in ICU, EKG shows nodal rhythm, extubates at 12h post op and at 48h was transferred to cardiology where they establish that patient studies suggest Brugada pattern; Conclusions: With the increasing number of patients with inherited driving disorders who present the thee for non-cardiac surgery who are at risk of sudden death; success in peri, trans and postoperative management depends on a detailed knowledge of these conditions. (AU)

Cardiac Disease Associated Genetic Variants in Yi Nationality in Regions with High Incidence of Yunnan Sudden Unexplained Death / 法医学杂志

Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death （YNSUD） in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages （inpatient group） and 197 healthy Yi villagers from neighboring villages （control group）. Fifty-two single nucleotide variants （SNVs） of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram （ECG） examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 （rs2278792, c.2318G>A, p.R773K） of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy （ARVC） in inpatient group was higher than that in control group （P<0.05）. Abnormal ECG changes were detected in 71 individuals （34.6%） in the inpatient group, among which 54 individuals carried R773K mutation, including clockwise （counterclockwise） rotation, left （right） axis deviation, ST segment and T wave alteration and heart-blocking. Conclusion Definite pathogenic mutations have not been found in the 52 cardiac disease genes associated SNVs detected in Yi nationality in regions with high incidence of YNSUD. The cause of high incidence of YNSUD in Yi nationality needs further study.

Prognostic value of coupling interval, prematurity index and heart rate variability in Boxer dogs / Valor prognóstico do intervalo de acoplamento, índice de prematuridade e variabilidade da frequência cardíaca em cães da raça Boxer

Boxer dogs with arrhythmogenic right ventricular cardiomyopathy (ARVC) can experience sudden cardiac death regardless of presence/absence of clinical signs. The aims of this retrospective study were two-fold: 1) to investigate the coupling interval (CI) and prematurity index (PI) of ventricular arrhythmias (VA), and the heart rate variability (HRV) in Boxers, and 2) to evaluate their impact on overall survival time. The first 24-hour Holter 36 client-owned Boxer dogs meeting inclusion/exclusion criteria were evaluated for the number, morphology, site of origin, complexity, CI and PI, of ventricular premature complexes (VPCs), and time domain HRV. The effect on survival was assessed, considering the presence/absence of ventricular tachycardia (VT), and syncope. All-cause mortality was considered as the end-point, with median survival times being obtained by Kaplan-Meier analyses and compared by log-rank test. Polymorphic VPCs were more common in symptomatic dogs than asymptomatic. VPCs in dogs with VT were less premature, due to the influence of heart rate on PI despite comparable CI. The PI and mean heart rate (HRme) were significantly different between VT and non-VT dogs but did not discriminate adequately between groups as standalone tests. Median survival time was shorter in Boxer dogs with VT (463 vs 1645 days, HR: 4.31, P=0.03). The HRV parameters, SDNN and SDANN, were both associated with prognosis. The CI and PI were not demonstrated to be prognostic surrogates in Boxer dogs with VA. HRme≥112bpm is 100% sensitive but only 46% specific for detecting VT in Boxers on the 24-hour Holter. Presence of VT, SDNN≤245ms, or SDANN≤134ms at the time of the first 24-hour Holter was associated with a shorter survival.(AU)

Cães da raça Boxer com cardiomiopatia arritmogênica do ventrículo direito (CAVD) podem apresentar morte súbita independentemente da presença/ausência de sinais clínicos. Os objetivos desse estudo retrospectivo foram: 1) investigar o intervalo de acoplamento (IA) e o índice de prematuridade (IP) das arritmias ventriculares e a variabilidade da frequência cardíaca (VFC) em Boxers, e 2) avaliar o impacto de tais características sob o tempo de sobrevida global. O primeiro Holter de 24 horas de 36 Boxers selecionados para os critérios de inclusão/exclusão foram avaliados para o número, morfologia, local de origem, complexidade, IA e IP dos complexos ventriculares prematuros (CVPs) e da VFC no domínio do tempo. O efeito na sobrevida foi avaliado, considerado a presença/ausência de taquicardia ventricular (TV), e síncope. O desfecho final foi a mortalidade global, com o tempo de sobrevida mediano sendo obtido pela análise de Kaplan-Meier e comparado pelo teste de log-rank. CVPs polimórficos foram mais comuns em cães sintomáticos. Os CVPs em Boxers com TV foram menos prematuros, devido à influência da frequência cardíaca (FC) sobre o IP, apesar de IA comparáveis. O IP e a FC média diferiram entre os cães com TV e os sem, mas não discriminam adequadamente os grupos como variáveis isoladas. A sobrevida global foi menor nos cães com TV (463 dias vs 1645 dias, HR=4,31, P=0,03). Os parâmetros da VFC, SDNN e SDANN, foram associados ao prognóstico. O IA e o IP não possuem valor prognóstico em Boxers com arritmias ventriculares. A FC média ≥112bpm é 100% sensível, mas apenas 46% específica para detectar Boxers com TV no Holter de 24 horas. A presença de TV, SDNN≤245ms, ou SDANN≤134ms no momento do primeiro Holter de 24 horas estão associados a menor sobrevida global no Boxer.(AU)

Sudden death caused by pulmonary fat embolism in a patient with miliary tuberculosis

An 84-year-old Japanese woman with myelodysplastic syndrome was admitted with pyrexia and dyspnea, but died suddenly during diagnostic evaluation. The autopsy revealed miliary tuberculosis in addition to myelodysplastic syndrome in the bone marrow. The immediate cause of the patient's sudden death was pulmonary fat embolism derived from bone marrow necrosis. This case shows that the infiltration of the myelodysplastic bone marrow by tuberculosis and consequent bone marrow necrosis and fat embolism can be the cause of sudden death. In this article, we report the autopsy results of this unusual cause of sudden death, and discuss tuberculosis-related sudden death with a review of the literature.

The Concept, Status Quo and Forensic Pathology of Karoshi / 法医学杂志

"Karoshi" originates from Japan's economic take-off period in the 1960s and 1970s. It is generally believed that overwork lead to the accumulation of fatigue, which triggers the outbreak of potential diseases, and results in sudden death. Karoshi causes great harm to both the community and families because it occurs primarily in 30 to 60 year old young adults. Japan put Karoshi into the category of industrial injury for the first time in 2001 and started to undertake a series of studies in the sociological and pathological fields. However, there is a tremendous gap in the forensic pathological diagnosis domain. In China, research on Karoshi started from the 1990s and is closely related to the reform and opening up policy as well as economic development. According to the incomplete statistics, 600 thousand people die from overwork each year in China, the highest in the world. Karoshi has become one of the most serious social problems in China at the present stage, thus a systematic study in the sociology and forensic pathology fields is urgently required. This paper summarizes the past and present status of Karoshi, and puts forward the problems that need attention during the judicial expertise of Karoshi from forensic pathology perspective.

Muerte súbita en epilepsia / Sudden death in epilepsy

The risk of sudden unexpected death in patients with epilepsy (SUDEP), is 20 to 25 times greater than in the general population. This increased risk is seen specially in refractory epilepsy, with an incidence of 9:1,000 patients-years. Risk factors have been established based on retrospective studies, finding that the frequency of seizures, specially generalized tonic clonic seizures, is the most important one. The physiopathological mechanism of SUDEP is not yet fully understood. Autonomic system abnormalities, as well as cardiac and respiratory changes have been found. The finding of new molecular biomarkers to identify patients with increased risk should be a priority. Treatment is based in the management of risk factors, although clear recommendations are hard to establish given the low level of evidence.

Valor do Strain Bidimensional no Diagnóstico da Miocardite Aguda: Comparação com a Ressonância Cardíaca / The Value of Two-dimensional Strain in the Diagnosis of Acute Myocarditis: Comparison with Cardiac Magnetic Resonance Imaging

Fundamento: A miocardite aguda é uma das principais causas de morte súbita em pacientes jovens. A ressonância magnética cardíaca (RMC) é um método sensível e não invasivo para detecção de miocardite, mas de alto custo e indisponível na maioria dos centros médicos. O strain bidimensional representa uma nova técnica ecocardiográfica que possibilita a avaliação da deformação miocárdica permitindo a análise da função miocárdica global e regional. Objetivo: Avaliar o valor do strain bidimensional em pacientes com diagnóstico de miocardite. Materiais e métodos: Foram estudados prospectivamente pacientes com quadro de miocardite aguda e contratilidade cardíaca normal pela RMC e submetidos à ecocardiografia convencional e strain bidimensional. O miocárdio ventricular foi dividido em 16 segmentos e esses segmentos divididos em dois grupos. Grupo 0: segmento miocárdico normal pela RMC. Grupo 1: segmento miocárdico compatível com miocardite pela RMC. Resultados: Foram avaliados 28 pacientes sendo 82,1% do sexo masculino, com idade de 35,6 ± 8,9 anos. Dos 448 segmentos miocárdicos avaliados, 316 segmentos foram normais (grupo 0) e 132 segmentos (grupo 1) apresentaram diagnóstico de miocardite pela técnica de realce tardio à RMC. A análise do strain bidimensional mostrou diferença significativa entre os grupos (19,6 ± 2,9 versus 15,4 ± 2,8 p = 0,001), com sensibilidade 75% e especificidade 79% e AUC de 0,86 (IC 95% 0,82 a 0,89). Conclusão: O strain bidimensional pode ser útil na avaliação propedêutica de pacientes com miocardite e contratilidade normal pela RMC e ecocardiografia convencional

Background: Acute myocarditis is one of the most important causes of sudden death in young people. Cardiac magnetic resonance (CMR) is a sensitive and non-invasive method in myocarditis diagnosis, but it is expensive and unavailable in most medical centers. Speckle tracking strain echocardiography is a new echocardiographic technique that enables the evaluation of myocardial deformation allowing analysis of global and regional myocardial function. Objective: To evaluate the value of speckle tracking strain echocardiography in patients with acute myocarditis and normal wall motion contraction. Materials and Methods: We prospectively studied patients with acute myocarditis and normal cardiac contractility by CMR and underwent conventional echocardiography and speckle tracking strain echocardiography. The ventricular myocardium was divided into 16 segments by CMR and echocardiography and separated into two groups: Normal myocardial segment (group 1) myocardial segment compatible with myocarditis (group 1). Results: We evaluated 28 patients (82.1% male), aged 35.6 ± 8.9 years. Of the 448 myocardial segments evaluated, 316 segments were normal (group 0) and 132 segments (group 1) were diagnosed with myocarditis by RMC. Speckle tracking strain echocardiography showed a significant difference between groups (-19.6 ± 2.9 versus -15.4 ± 2.8 p = 0.001), with sensitivity of 75% and specificity of 79% with AUC of 0.86 (95% CI 0.82 to 0.89). Conclusion: Speckle tracking strain echocardiography can be useful in the diagnosis evaluation of patients with myocarditis and normal contractility by CMR and conventional echocardiography

Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death / 法医学杂志

OBJECTIVES@#To explore the genetic variation sites of caveolin （CAV） and their correlation with sudden unexplained death （SUD）.@*METHODS@#The blood samples were collected from SUD group （71 cases）, coronary artery disease （CAD） group （62 cases） and control group （60 cases）, respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed.@*RESULTS@#A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1： c.45C>T （T15T） and CAV1：c.512G>A （R171H）, and two were SNP loci which were CAV1：c.246C>T （rs35242077） and CAV3：c.99C>T （rs1008642） and had significant difference （P<0.05） in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group.@*CONCLUSIONS@#The variants of CAV1 and CAV3 may be correlated with a part of SUD group.

Research Progress of the Relationship between SUNDS and OSAHS / 法医学杂志

Sudden unexplained nocturnal death syndrome （SUNDS） is always a difficulty in forensic medicine researches. Although the development of molecular genetics promotes the etiologic study of SUNDS, the pathogenesis of most such cases is still unclear. Sleep apnea syndrome （SAS） is one of the common forms of sleep disorders, and obstructive sleep apnea hypopnea syndrome （OSAHS） is the most common. In recent years, some domestic and international researches show that OSAHS is related to the development of cardiovascular disease, which may cause cardiac arrhythmia, even sudden death. This article reviews the relationship between SUNDS and OSAHS and aims to provide new ideas for the pathogenesis of SUNDS.

Lifetime Prevalence of Transient Loss of Consciousness in an Urban Russian Population / Prevalência de Perda de Consciência Temporária em População Russa Urbana

Abstract Background: Most international studies on epidemiology of transient loss of consciousness (TLC) were performed many years ago. There are no data about the lifetime prevalence of TLC in Russia. Objective: To identify the lifetime prevalence and presumed mechanisms of TLC in an urban Russian population. Methods: 1796 individuals (540 males [30.1%] and 1256 females [69.9%]) aged 20 to 69 years (mean age 45.8 ± 11.9 years) were randomly selected and interviewed within the framework of multicentre randomised observational trial. Results: The overall prevalence of TLC in the studied population was 23.3% (418/1796), with the highest proportion (28%) seen in 40-49 year age group. TLC was significantly more common in women than in men (27.5% vs 13.5%). The mean age of patients at the time of the first event was 16 (11; 23) years, with 333 (85%) individuals experiencing the first episode of TLC under 30 years. The average time after the first episode of TLC was 27 (12; 47) years. The following mechanisms of TLC were determined using the questionnaire: neurally-mediated syncope (56.5%), arrhythmogenic onset of syncope (6.0%), nonsyncopal origin of TLC (1.4%), single episode during lifetime (2.1%). Reasons for TLC remained unidentified in 34% cases. 27 persons (6.5%) reported a family history of sudden death, mainly patients with presumably arrhythmogenic origin (24%). Conclusion: Our findings suggest that the overall prevalence of TLC in individuals aged 20-69 years is high. The most common cause of TLC is neurally-mediated syncope. These data about the epidemiology can help to develop cost-effective management approaches to TLC.

Resumo Fundamento: A maioria dos estudos internacionais sobre epidemiologia da perda de consciência temporária (PCT) foi realizada há muitos anos. Não há dados sobre sua prevalência ao longo da vida na Rússia. Objetivo: Identificar a prevalência ao longo da vida e os supostos mecanismos da PCT em uma população russa urbana. Métodos: 1.796 indivíduos (540 homens 30,1% e 1.256 mulheres 69,9%) com idade entre 20 e 69 anos (idade média, 45,8 ± 11,9 anos) foram selecionados aleatoriamente e entrevistados no contexto de um estudo multicêntrico randomizado observacional. Resultados: A prevalência global de PCT na população estudada foi 23,3% (418/1.796), sendo a mais alta proporção (28%) observada na faixa etária de 40-49 anos. PCT foi significativamente mais comum nas mulheres (27,5% vs 13,5%). A idade média dos pacientes por ocasião do primeiro evento foi 16 (11; 23) anos, com 333 (85%) indivíduos experienciando o primeiro episódio de PCT antes dos 30 anos. O tempo médio após o primeiro episódio de PCT foi 27 (12; 47) anos. Os seguintes mecanismos de PCT foram determinados usando-se um questionário: síncope neuromediada (56,5%), síncope de origem arritmogênica (6,0%), PCT de origem não sincopal (1,4%), episódio único durante a vida (2,1%). A causa de PCT não foi identificada em 34% dos casos, sendo que 27 pacientes (6,5%) relataram história familiar de morte súbita, principalmente aqueles com PCT de suposta origem arritmogênica (24%). Conclusão: Nossos achados sugerem uma alta prevalência global de PCT em indivíduos com idade entre 20 e 69 anos. A causa mais comum de PCT é a síncope neuromediada. Esse dado sobre a epidemiologia pode contribuir para o desenvolvimento de abordagem custo-efetiva para PCT.

Lethal pulmonary thromboembolism associated with decreased thyroid hormone levels

Thyroid pathology is rarely involved in the pathogenesis of sudden death in young people. We report here the cases of two young patients with decreased levels of thyroid hormones whose death was caused by an increased thrombotic status, with venous thrombosis and pulmonary thromboembolism. In both cases the thyroid pathology was not considered as the underlying cause of death as the association between this condition and venous thrombosis is still debatable. However its presence may be considered a circumstantial factor, which could increase the severity of the disease and subsequently the lethality rate in pulmonary thromboembolism. An increased awareness for hypothyroidism or subclinical hypothyroidism in clinical practice may lead to a decrease in mortality secondary to thromboembolic disease. Also, increased awareness for thyroid pathology during forensic autopsy in sudden deaths may lead to potentially significant results, that could explain some of the sudden death with an unknown cause, and decrease the number of the so called blank autopsies.

Right ventricular hydatid cyst ruptured to pericardium.

Cardiac hydatidosis is rare presentation of body hydatidosis. Incidence of cardiac involvements range from 5% to 5% of patients with hydatid disease. Most common site of hydatid cyst in heart is interventricular septum and left ventricular free wall. Right ventricular free wall involvement by cyst that ruptured to pericardial cavity is very rare presentation of hydatid cyst. Cardiac involvement may have serious consequences such as rupture to blood steam or pericardial cavity. Both the disease and its surgical treatment carry a high complication rate, including rupture leading to cardiac tamponade, anaphylaxis and also death. In the present report, a 43‑year‑old man with constrictive pericarditis secondary to a pericardial hydatid cyst is described.