Postmortem molecular screening in unexplained sudden death

Chugh, Sumeet S.; Senashova, Olga; Watts, Allison W.; Tran, Phuoc T.; Zhou, Zhengfeng; Gong, Qiuming; Titus, Jack L.; Hayflick, Susan J.

doi:10.1016/j.jacc.2003.11.052

Cited by 156 publications

(90 citation statements)

References 32 publications

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“…[2][3][4] We have also examined the possible mutations of genes responsible for long QT syndrome, and found 1 case possessing a novel mutation of KCNQ1, which encodes a cardiac voltage-dependent K + channel (unpublished data). Whether the mutation was really involved in the cause of death in the victim is still being investigated.…”

Section: Discussionmentioning

confidence: 99%

“…1 Fatal arrhythmia has been suggested as being involved in the etiology of SUD. [2][3][4] Recent progress in postmortem molecular analysis has revealed that mutations of the cardiac ryanodine receptor type 2 (RyR2) gene are involved in some cases of SUD. 5 The RyR2 gene, encompassing 105 exons, encodes a Ca 2+ channel, which is localized across the sarcoplasmic reticulum (SR) membrane of cardiomyocytes.…”

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confidence: 99%

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Postmortem Molecular Screening for Cardiac Ryanodine Receptor Type 2 Mutations in Sudden Unexplained Death R420W Mutated Case With Characteristics of Status Thymico-Lymphaticus

Nishio

Iwata

Suzuki

2006

Circ J

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Postmortem Molecular Screening for Cardiac Ryanodine Receptor Type 2 Mutations in Sudden Unexplained Death R420W Mutated Case With Characteristics of Status Thymico-Lymphaticus

Nishio

Iwata

Suzuki

2006

Circ J

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“…Channelopathies are dysfunctional myocyte ion channels that result in abnormal movement of electrolytes into and/or out of the cell and predispose the heart to arrhythmia. [492][493][494][495][496][497][498][499][500][501] Mutations causing cardiac ion channelopathies are found in 2% to 10% of victims [492][493][494][495][496][497][498] and in 14% to 20% of young adults with sudden death in whom the cause of death is not evident in a routine autopsy. 499 -501 Clinical and laboratory (eg, ECG, molecular-genetic screening) investigations of first-and second-degree relatives of patients with sudden unexplained death reported inherited, arrhythmogenic disease in 22% to 53% of families.…”

Section: Sudden Unexplained Deathsmentioning

confidence: 99%

Part 14: Pediatric Advanced Life Support

Kleinman¹,

Chameides²,

Schexnayder³

et al. 2010

Circulation

915

304

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“…Los estudios moleculares de MSC incluyen la detección de genoma viral en las miocardiopatías inflamatorias y el análisis de mutaciones genéticas en enfermedades cardíacas estructurales y no estructurales determinadas genéticamente [1,7,8,26]. Para este propósito, 10 ml de sangre con EDTA y 5 g de tejido cardíaco y esplénico son congelados y conservados a -80 ºC o, como alternativa, guardados en RNA later a 4 ºC hasta un período de 2 semanas.…”

Section: Patología Molecularunclassified

Guías para la práctica de la autopsia en casos de muerte súbita cardíaca

Basso

Burke

Fornès³

et al. 2009

Cuad. med. forense

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Although sudden cardiac death is one of the most important mode of death in Western Countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed, and the accurate diagnosis of the causes of sudden cardiac death is now of particular importance. Pathologists are responsible for determining the precise cause of sudden death but there is considerable variation in the way in which they approach this increasingly complex task. The Association for European Cardiovascular Pathology developed guidelines, which represent the minimum standard that is required in the routine autopsy practice for the adequate assessment of sudden cardiac death, including not only a protocol for heart examination and histological sampling, but also for toxicology and molecular investigation. Our recommendations apply to university medical centres, regional and district hospitals and all types of forensic medicine institutes. If a uniform method of investigation is adopted throughout the European Union, this will lead to improvements in standards of practice, allow meaningful comparisons between different communities and regions and, most importantly, permit future trends in the patterns of disease causing sudden death to be monitored.Key words: Autopsy. Guidelines. Protocol. Sudden cardiac death.Guías para la práctica de la autopsia en casos de muerte súbita cardíaca.Guidelines for autopsy investigation of sudden cardiac death. INTRODUCCIÓN:La muerte súbita cardíaca (MSC) es la principal causa de muerte en todas las comunidades de los Estados Unidos y de la Unión Europea, pero su incidencia real es desconocida. Los métodos internacionalmente aceptados de certificación de la muerte no incluyen una categoría específica para la MSC. Se estima que en Estados Unidos entre 250.000 y 400.000 adultos mueren súbitamente cada año por patologías de origen cardiovascular, con una incidencia global de 1 a 2/1.000 habitantes y año [13,18,29]. Un grupo de trabajo de la Sociedad Europea de Cardiología ha recogido tasas de mortalidad de 36-128 fallecimientos por 100.000 habitantes y año [3,19], más del 60% de los cuales son resultado de enfermedad coronaria arteriosclerótica. Entre la población general de adolescentes y adultos jóvenes menores de 30 años, el riego global de MSC es de 1/100.000 y un amplio espectro de enfermedades puede explicar el evento final [9].Las mayores dificultades en la interpretación de los datos epidemiológicos de muerte súbi-ta son la falta de estandarización en la codificación de los certificados de defunción y la variabilidad en la definición de muerte súbita. La muerte súbita se ha definido como "aquel evento fatal inesperado, de origen natural, que ocurre en la hora siguiente al inicio de los síntomas en un individuo aparentemente sano o con una enfermedad cuya gravedad no hace prever un final tan rápido" [14]. Este concepto describe fielmente muchas muertes presenciadas en la comunidad o en los se...

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Postmortem molecular screening in unexplained sudden death

Cited by 156 publications

References 32 publications

Postmortem Molecular Screening for Cardiac Ryanodine Receptor Type 2 Mutations in Sudden Unexplained Death R420W Mutated Case With Characteristics of Status Thymico-Lymphaticus

Postmortem Molecular Screening for Cardiac Ryanodine Receptor Type 2 Mutations in Sudden Unexplained Death R420W Mutated Case With Characteristics of Status Thymico-Lymphaticus

Part 14: Pediatric Advanced Life Support

Guías para la práctica de la autopsia en casos de muerte súbita cardíaca

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