Comparison of conventional autopsy and magnetic resonance imaging in determining the cause of sudden death in the young

Puranik, Rajesh; Gray, Belinda; Lackey, Helen; Yeates, Laura; Parker, Glendon J.; Duflou, Johan; Semsarian, Christopher

doi:10.1186/1532-429x-16-44

Cited by 45 publications

(33 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In addition to traditional autopsy, some reports have used whole-body computed tomography and magnetic resonance imaging to identify structural heart abnormalities such as ARVC and HCM. 26,27 However, these imaging modalities were not used in the present study.…”

Section: Discussionmentioning

confidence: 99%

Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives

et al. 2019

View full text Add to dashboard Cite

Objective: Sudden arrhythmia death syndrome (SADS) accounts for about 30% of causes of sudden cardiac death (SCD) in young people. In Hong Kong, there are scarce data on SADS and a lack of experience in molecular autopsy. We aimed to investigate the value of molecular autopsy techniques for detecting SADS in an East Asian population. Methods:This was a two-part study. First, we conducted a retrospective 5-year review of autopsies performed in public mortuaries on young SCD victims. Second, we conducted a prospective 2-year study combining conventional autopsy investigations, molecular autopsy, and cardiac evaluation of the first-degree relatives of SCD victims. A panel of 35 genes implicated in SADS was analysed by next-generation sequencing.Results: There were 289 SCD victims included in the 5-year review. Coronary artery disease was the major cause of death (35%); 40% were structural heart diseases and 25% were unexplained. These unexplained cases could include SADS-related conditions. In the 2-year prospective study, 21 SCD victims were examined: 10% had arrhythmogenic right ventricular cardiomyopathy, 5% had hypertrophic cardiomyopathy, and 85% had negative autopsy. Genetic analysis showed 29% with positive heterozygous genetic variants; six variants were novel. One third of victims had history of syncope, and 14% had family history of SCD. More than half of the 11 first-degree relatives who underwent genetic testing carried related genetic variants, and 10% had SADS-related clinical features. Conclusion: This pilot feasibility study shows the value of incorporating cardiac evaluation of Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and twoyear prospective molecular autopsy study by nextgeneration sequencing and clinical evaluation of their first-degree relativesNew knowledge added by this study • This study provides important data on the prevalence and types of sudden arrhythmia death syndrome (SADS) among young victims of sudden cardiac death in an East Asian population. • This is the first local feasibility study on the service model incorporating cardiac evaluation of surviving relatives and molecular autopsy by next-generation sequencing into the conventional forensic investigations. Implications for clinical practice or policy • Genomic testing should be conducted on patients with cardiomyopathies and channelopathies.• Clinical assessment should be provided for at-risk family members irrespective of genetic findings.• Molecular autopsy together with conventional autopsy conducted by qualified pathologists should be applied to victims of SADS, sudden unexpected death in epilepsy, or sudden infant death syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Minimally invasive studies of combined PMCT, PMCTA, and biopsies have the greatest sensitivity for cause of death determinations compared to conventional autopsy . Research on imaging alternatives to conventional autopsy will focus on reducing the cost and time of imaging autopsies in hopes of increasing the rate of imaging autopsy …”

Section: Use Of Forensic Radiology and Imaging In Medicinementioning

confidence: 99%

Forensic Radiology and Imaging for Veterinary Radiologists

Watson

Heng

2017

Vet Radiology Ultrasound

View full text Add to dashboard Cite

Imaging studies are often of evidentiary value in medicolegal investigations involving animals and the role of the veterinary radiologist is to interpret those images for courts as an expert or opinion witness. With progressing interest in prosecuting animal crimes and strengthening of penalties for crimes against animals, the participation of veterinary radiologists in medicolegal investigations is expected to increase. Veterinary radiologists who are aware of radiographic and imaging signs that result in animal suffering, abuse, or neglect; knowledgeable in ways radiology and imaging may support cause of death determinations; conversant in postmortem imaging; comfortable discussing mechanisms and timing of blunt or sharp force and projectile trauma in imaging; and prepared to identify mimics of abuse can assist court participants in understanding imaging evidence. The goal of this commentary review is to familiarize veterinary radiologists with the forensic radiology and imaging literature and with the advantages and disadvantages of various imaging modalities utilized in forensic investigations. Another goal is to provide background information for future research studies in veterinary forensic radiology and imaging.

show abstract

“…Computer tomography (CT) and cardiac magnetic resonance (CMR) have become increasingly important in diagnostic pathways and have also been explored in the postmortem setting. 22,23 Of interest, Puranik et al reported that CMR was able to accurately diagnose ARVC, HCM, myocardial infarction/CAD, ruptured aortic aneurysm, pulmonary embolus and myocarditis as the cause of death in 12 out of 12 subjects who went on to have confirmatory autopsy. 23 There were particular limitations noted such as the potential to overdiagnose conditions such as HCM due to myocardial edema or death during systole which artificially increase the ventricular septal thickness or ARVC whereby right ventricular dilatation is used as a diagnostic criteria, but the systolic dysfunction and regional dyskinesis diagnostic components are not met.…”

Section: Emerging Role Of Imagingmentioning

confidence: 99%

“…22,23 Of interest, Puranik et al reported that CMR was able to accurately diagnose ARVC, HCM, myocardial infarction/CAD, ruptured aortic aneurysm, pulmonary embolus and myocarditis as the cause of death in 12 out of 12 subjects who went on to have confirmatory autopsy. 23 There were particular limitations noted such as the potential to overdiagnose conditions such as HCM due to myocardial edema or death during systole which artificially increase the ventricular septal thickness or ARVC whereby right ventricular dilatation is used as a diagnostic criteria, but the systolic dysfunction and regional dyskinesis diagnostic components are not met. Of relevance, a recent study utilizing CMR in the diagnostic work up of out of hospital cardiac arrest patients showed that CMR performed within 7 days of presentation identified a diagnosis in all 44 patients, but more importantly was able to reclassify 11 out of the 26 cases without obstructive coronary disease after initial assessment with coronary angiography and echocardiography.…”

Section: Emerging Role Of Imagingmentioning

confidence: 99%

<p>Spotlight on sudden arrhythmic death syndrome</p>

Yuan¹,

Raju²

2019

RRCC

View full text Add to dashboard Cite

Sudden cardiac death (SCD) is defined as death from a cardiac cause within 1 hr of symptom onset or, if unwitnessed, in a person last seen well within 24 hrs. Sudden arrhythmic death syndrome (SADS) describes cases of SCD with no abnormalities found on expert autopsy attributable as the cause of death. The epidemiology of these conditions has been challenging to study as definitions have changed over time; however, it is apparent that the incidence of SCD increases with age whilst SADS decreases as coronary artery disease becomes more prevalent. Accurate reporting of truly negative autopsies of SCDs has been assisted by guidelines from governing bodies such as The Association for European Cardiovascular Pathology, allowing identification of SADS cases. Primary arrhythmic cardiac conditions like ong QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are the predominant etiologies of SADS. When the decedent did not have a known phenotype for these conditions, clinical evaluation using screening tests like echocardiogram, resting and stress electrocardiograms and holter monitoring, followed by specialized testing when appropriate such as cardiac magnetic resonance and pharmacological provocation testing of surviving family members becomes crucial in potentially identifying the cause and guide targeted genetic testing. Although advancement in gene analysis such as next-generation sequencing has also allowed the application of "molecular autopsy" to identify pathogenic variants to establish the cause of death and enable cascade testing and risk stratification of family members, many of the genetic variants identified through this method have been classified as non-pathogenic since the establishment of standards and guidelines by the American College of Medical Genetics. Whilst majority of cases of SADS are still unexplained, there is increasing awareness and understanding of this syndrome allowing appropriate identification of surviving family members at risk and implementation of measures to prevent further premature death.

show abstract

Comparison of conventional autopsy and magnetic resonance imaging in determining the cause of sudden death in the young

Cited by 45 publications

References 27 publications

Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives

Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives

Forensic Radiology and Imaging for Veterinary Radiologists

<p>Spotlight on sudden arrhythmic death syndrome</p>

Contact Info

Product

Resources

About