Muerte súbita por disección de aorta torácica en jóvenes: estudio multicéntrico forense / Sudden death due to thoracic aortic dissection in young people: a multicenter forensic study

Introducción y objetivos: La disección de la aorta torácica (DAT) es infrecuente en jóvenes y presenta características diferentes que en la población adulta. En este estudio se analizan las características clinicopatológicas de la muerte súbita por DAT de personas de 1-35 años. Métodos: Estudio poblacional multicéntrico basado en autopsias forenses realizadas en las provincias de Vizcaya (periodo 1991-2016), Valencia (2000-2016) y Sevilla (2004-2016). Resultados: Se recogieron 35 casos (el 80% varones), con una media de edad de 29+/-5 años. La incidencia fue de 0,09/100.000 habitantes/año; 18 sujetos tenían algún factor de riesgo y 29, 1 o más factores de riesgo o hallazgos post mortem asociados con DAT: cardiopatía congénita (n=16), sospecha de DAT familiar (n=11), consumo de cocaína (n=6) e hipertensión arterial (n=5). En 24 casos, 12 con algún factor de riesgo, ya habían presentado síntomas previamente; 16 acudieron al médico, pero nunca hubo sospecha de DAT. El dolor torácico (n=12) fue el síntoma más frecuente. Los hallazgos autópsicos principales fueron: degeneración quística de la media (n=27), dilatación de la aorta ascendente (n=21), cardiomegalia (n=20) y válvula aórtica bicúspide (n=14). Conclusiones: La incidencia de muerte súbita por DAT fue muy baja. Los factores de riesgo más frecuentes fueron las cardiopatías congénitas, seguidas de la sospecha de DAT familiar y el consumo de cocaína. Se debería incluir la DAT en el diagnóstico diferencial del dolor torácico en jóvenes, principalmente varones, con factores de riesgo asociados

Introduction and objectives: Thoracic aortic dissection (TAD) is infrequent in young people and its characteristics differ from those in the adult population. This study aimed to analyze the clinical and pathological characteristics of sudden death due to TAD in people aged 1 to 35 years. Methods: Multicenter population-based study based on forensic autopsies conducted in the provinces of Biscay (1991-2016), Valencia (2000-2016), and Seville (2004-2016). Results: We identified 35 individuals with sudden death due to TAD (80% males), with a mean age of 29+/-5 years. The incidence was 0.09/100 000 inhabitants/y. Eighteen persons had at least 1 risk factor for TAD, and this figure increased to 29 when postmortem findings were included: congenital heart disease (n=16), suspicion of familial TAD (n=11), cocaine use (n=6), and hypertension (n=5). Twenty-four individuals, 12 with at least 1 risk factor, had prodromal symptoms, and 16 of them visited their physician, but TAD was not suspected in any of them. The most frequent symptom was chest pain (n=12). The main autopsy findings were cystic degeneration of the media (n=27), dilatation of the ascending aorta (n=21), cardiac hypertrophy (n=20), and bicuspid aortic valve (n=14). Conclusions: The incidence of sudden death due to TAD in young people was very low. The most frequent risk factors were congenital heart disease followed by suspicion of familial TAD and cocaine use. TAD should be included in the differential diagnosis of chest pain in young people, mainly male patients with at least 1 risk factor

Sudden Death Due to Thoracic Aortic Dissection in Young People: A Multicenter Forensic Study.

INTRODUCTION AND OBJECTIVES: Thoracic aortic dissection (TAD) is infrequent in young people and its characteristics differ from those in the adult population. This study aimed to analyze the clinical and pathological characteristics of sudden death due to TAD in people aged 1 to 35 years. METHODS: Multicenter population-based study based on forensic autopsies conducted in the provinces of Biscay (1991-2016), Valencia (2000-2016), and Seville (2004-2016). RESULTS: We identified 35 individuals with sudden death due to TAD (80% males), with a mean age of 29±5 years. The incidence was 0.09/100 000 inhabitants/y. Eighteen persons had at least 1 risk factor for TAD, and this figure increased to 29 when postmortem findings were included: congenital heart disease (n=16), suspicion of familial TAD (n=11), cocaine use (n=6), and hypertension (n=5). Twenty-four individuals, 12 with at least 1 risk factor, had prodromal symptoms, and 16 of them visited their physician, but TAD was not suspected in any of them. The most frequent symptom was chest pain (n=12). The main autopsy findings were cystic degeneration of the media (n=27), dilatation of the ascending aorta (n=21), cardiac hypertrophy (n=20), and bicuspid aortic valve (n=14). CONCLUSIONS: The incidence of sudden death due to TAD in young people was very low. The most frequent risk factors were congenital heart disease followed by suspicion of familial TAD and cocaine use. TAD should be included in the differential diagnosis of chest pain in young people, mainly male patients with at least 1 risk factor.

Unidades multidisciplinares en el estudio y prevención de la muerte súbita por cardiopatías familiares / Multidisciplinary units, a key element in the study and prevention of sudden cardiac death caused by inherited cardiac conditions

La muerte súbita es fundamentalmente cardiaca y tiene un gran impacto social, económico y mediático. Cuando acontece en personas jóvenes, suele obedecer a causas genéticas (cardiopatías familiares). En este grupo se incluyen las miocardiopatías, canalopatías y el aneurisma/disección aórtica familiar. Las cardiopatías familiares son enfermedades raras en términos de prevalencia y poco conocidas, por lo que su manejo requiere formación especializada y multidisciplinar. La muerte súbita suele acontecer en el ámbito extrahospitalario y es objeto de una autopsia forense. Estas autopsias deberían realizarse de acuerdo a los estándares mínimos de calidad de las guías europeas. El claro sustrato genético justifica la necesidad de un screening familiar para realizar diagnósticos precoces y también para descartarla en otros familiares en riesgo a través de un abordaje multidisciplinar que ofrezca una medicina personalizada a las familias afectadas. Además de las cuestiones médicas, este esquema permite ofrecer apoyo psicológico precoz y consejo genético de cara a planificar nuevas gestaciones. En España existe un gran vacío legal en el abordaje de la muerte súbita y su prevención, con una falta de homogenización entre las distintas comunidades autónomas tanto a nivel judicial como asistencial debido a las características del proceso de transferencia de competencias y a la organización territorial judicial y forense. Sería deseable que, desde los órganos consultivos de ambos ministerios (Sanidad y Justicia) se elaborara un plan de actuación global que asegurara la calidad en el estudio post mortem y su continuidad en el posterior estudio familiar clínico y genético. Así, el potencial clínico-preventivo de las autopsias tomaría cuerpo y revertiría en un claro beneficio para las familias afectadas y para la sociedad en general favoreciendo asimismo la docencia y la investigación, tan importantes para el avance del conocimiento en este ámbito tan desconocido y devastador (AU)

Cardiac diseases often underlie sudden deaths. Sudden death has a great social and economic impact and generates loads of media attention. When it occurs in young people, it is usually due to genetic causes (inherited heart diseases). This group includes cardiomyopathies, channelopathies, and familial thoracic aortic aneurysm/dissection. Inherited heart conditions are rare diseases in terms of prevalence and little knowledge is still available from most of them, so their management requires specialised and multidisciplinary training. Sudden death usually occurs in the out-of-hospital setting, and there has to be a forensic autopsy. These autopsies should be performed according to the minimum quality standards of the European guidelines. The clear genetic background justifies the need for a family screening to enable early diagnosis and also to rule it out in other family members at risk using a multidisciplinary approach offering personalised medicine to the affected families. In addition to medical issues, this scheme enables the provision of early psychological support and genetic counseling to plan new gestations. In Spain there is a great legal void in the approach to sudden death and its prevention, with a lack of homogenisation among the different counties, both at the judicial and healthcare levels due to the variable recognition of acquired skills and to the differences in the judicial and territorial forensic organisation throughout the country. It would be desirable that the consultative panels of both Ministries (Health and Justice) developed a comprehensive plan to ensure the quality in post-mortem studies and a proper subsequent clinical and genetic family study in public health services. Thus, the clinical-preventive potential of the autopsies would take shape and become a clear benefit for the affected families and for the society in general. This measure would also favour the teaching and the research of inherited cardiac diseases, which is of paramount importance to improve the current knowledge in this field, so unknown and so devastating (AU)

The adult macaque spinal cord central canal zone contains proliferative cells and closely resembles the human.

The persistence of proliferative cells, which could correspond to progenitor populations or potential cells of origin for tumors, has been extensively studied in the adult mammalian forebrain, including human and nonhuman primates. Proliferating cells have been found along the entire ventricular system, including around the central canal, of rodents, but little is known about the primate spinal cord. Here we describe the central canal cellular composition of the Old World primate Macaca fascicularis via scanning and transmission electron microscopy and immunohistochemistry and identify central canal proliferating cells with Ki67 and newly generated cells with bromodeoxyuridine incorporation 3 months after the injection. The central canal is composed of uniciliated, biciliated, and multiciliated ependymal cells, astrocytes, and neurons. Multiciliated ependymal cells show morphological characteristics similar to multiciliated ependymal cells from the lateral ventricles, and uniciliated and biciliated ependymal cells display cilia with large, star-shaped basal bodies, similar to the Ecc cells described for the rodent central canal. Here we show that ependymal cells with one or two cilia, but not multiciliated ependymal cells, proliferate and give rise to new ependymal cells that presumably remain in the macaque central canal. We found that the infant and adult human spinal cord contains ependymal cell types that resemble those present in the macaque. Interestingly, a wide hypocellular layer formed by bundles of intermediate filaments surrounded the central canal both in the monkey and in the human, being more prominent in the stenosed adult human central canal.

La "autopsia blanca" / The negative autopsy

En Patología Forense, frecuentemente nos encontramos con autopsias de muertes súbitas en las que se observan lesiones inespecíficas (edema pulmonar y/o cerebral) como únicos hallazgos macroscópicos y en ocasiones también microscópicos. La información clínica suele ser escasa, la muerte normalmente ocurre sin testigos y el lugar del levantamiento aporta pocos datos orientativos. Nos encontramos, en principio, ante la llamada incorrectamente "autopsia blanca". En estos casos, es imprescindible descartar la participación de tóxicos o trastornos electrolíticos, así como estar familiarizados con todas aquellas patologías que puedan cursar con una muerte súbita. La casuística en este tipo de muertes es reducida debido a su escasa frecuencia y a la dificultad de inscribir correctamente la causa de muerte en los registros de mortalidad. Este artículo trata de revisar aquellas patologías extracardíacas que, con mayor frecuencia, nos podemos encontrar en este tipo de autopsias: muerte súbita e inesperada del epiléptico, trauma cerebral mínimo, asma bronquial, hipertensión pulmonar, microembolismo, diabetes mellitus tipo I y cetoacidosis alcohólica. En muchos de estos casos, los estudios químico-toxicológicos e histológicos postmortem pueden establecer la causa de muerte, si los datos clínicos y los obtenidos en el momento del levantamiento son compatibles con la misma (AU)