Sudden cardiac death in the young: A consensus statement on recommended practices for cardiac examination by pathologists from the Society for Cardiovascular Pathology

Kelly, Karen; Lin, Peter T.; Basso, Cristina; Bois, Melanie C.; Buja, L. M.; Cohle, Stephen D.; d’Amati, Giulia; Duncanson, Emily; Fallon, John T.; Firchau, Dennis J.; Fishbein, Gregory A.; Giordano, Carla; Leduc, Charles; Litovsky, Silvio; Mackey‐Bojack, Shannon; Maleszewski, Joseph J.; Michaud, Katarzyna; Padera, Robert F.; Papadodima, Stavroula; Parsons, Sarah; Radio, Stanley J.; Rizzo, Stefania; Roe, Susan J.; Romero, Maria; Sheppard, Mary N.; Stone, James R.; Tan, Carmela D.; Thiene, Gaetano; Wal, Allard C. van der; Veinot, John P.

doi:10.1016/j.carpath.2022.107497

Cited by 25 publications

(27 citation statements)

References 89 publications

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“…In large part of cases, it impedes a proper diagnosis and results may not be conclusive due to technical impediments and any postmortem changes to the quality of the sample collected during autopsy could have an impact on results (102). Currently, blood is the optimum specimen for molecular genetic studies despite fresh/frozen tissues and formalin-fixed and paraffin-embedded (FFPE) tissue samples are also sources for DNA extraction (101). At this time, there are various technical platforms for genetic analysis.…”

Section: Samplesmentioning

confidence: 99%

“…In addition, due to the progressive number of rare variants which remain with an ambiguous role after a molecular autopsy, a large part of SUD cases remains inconclusive; therefore, it should be useful to develop recommendations/guidelines focused on variant interpretation in forensic medicine. Recently, Society of Cardiovascular Pathology has published a guide of recommendations to pathologists for a comprehensive and standardized cardiac examination in cases of SCD (101).…”

Section: Recommendations/guidelinesmentioning

confidence: 99%

“…Current guidelines for autopsy investigation of SCD cases recommends a genetic analysis in post-mortem cases (2), following standardized cardiac protocols (101). There are numerous obstacles that impede quality investigation of SCD.…”

Section: Medico-legal Issuesmentioning

confidence: 99%

“…There are numerous obstacles that impede quality investigation of SCD. Despite recommended in current guidelines (7,92,101), performing molecular autopsy usually depends on the authorization received by the competent public authorities (114). If this authorization is granted, acquiring further consent for the analysis is not usually required (110).…”

Section: Medico-legal Issuesmentioning

confidence: 99%

“…Firstdegree relative, who are directly exposed to this risk, should be carefully counseled, albeit balancing health risks alert and patient rights empowerment should be the main concern of the counselor (116). In detail, it is advisable to explain to the person who gives their consent the reason or reasons why a genetic study is going to be carried out, as well as what is going to be tested and the benefits for family members, and especially offspring (101,110).…”

Section: Medico-legal Issuesmentioning

confidence: 99%

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Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

et al. 2023

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In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as negative or non-conclusive, usually occurs in young population. In these cases, in which the cause of death is unascertained after a thorough autopsy, an underlying inherited arrhythmogenic syndrome is the main suspected cause of death. Next-generation sequencing allows a rapid and cost-effectives genetic analysis, identifying a rare variant classified as potentially pathogenic in up to 25% of sudden death cases in young population. The first symptom of an inherited arrhythmogenic disease may be a malignant arrhythmia, and even sudden death. Early identification of a pathogenic genetic alteration associated with an inherited arrhythmogenic syndrome may help to adopt preventive personalized measures to reduce risk of malignant arrhythmias and sudden death in the victim’s relatives, at risk despite being asymptomatic. The current main challenge is a proper genetic interpretation of variants identified and useful clinical translation. The implications of this personalized translational medicine are multifaceted, requiring the dedication of a specialized team, including forensic scientists, pathologists, cardiologists, pediatric cardiologists, and geneticists.

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Section: Samplesmentioning

confidence: 99%

Section: Recommendations/guidelinesmentioning

confidence: 99%

Section: Medico-legal Issuesmentioning

confidence: 99%

Section: Medico-legal Issuesmentioning

confidence: 99%

Section: Medico-legal Issuesmentioning

confidence: 99%

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Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

et al. 2023

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An IoMT Enabled Iterative Artificial Bee Colony Approach Using Federated Learning for Detection of Heart Disease

Khan,

Akhtar,

Siddiqi

et al. 2024

Springer Tracts in Nature-Inspired Computing

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Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening

et al. 2023

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Cardiomyopathies (CMP) comprise a heterogenous group of diseases affecting primarily the myocardium, either genetic and/or acquired in origin. While many classification systems have been proposed in the clinical setting, there is no internationally agreed pathological consensus concerning the diagnostic approach to inherited CMP at autopsy. A document on autopsy diagnosis of CMP is needed because the complexity of the pathologic backgrounds requires proper insight and expertise. In cases presenting with cardiac hypertrophy and/or dilatation/scarring with normal coronary arteries, a suspicion of inherited CMP must be considered, and a histological examination is essential. Establishing the actual cause of the disease may require a number of tissue-based and/or fluid-based investigations, be it histological, ultrastructural, or molecular. A history of illicit drug use must be looked for. Sudden death is frequently the first manifestation of disease in case of CMP, especially in the young. Also, during routine clinical or forensic autopsies, a suspicion of CMP may arise based on clinical data or pathological findings at autopsy. It is thus a challenge to make a diagnosis of a CMP at autopsy. The pathology report should provide the relevant data and a cardiac diagnosis which can help the family in furthering investigations, including genetic testing in case of genetic forms of CMP. With the explosion in molecular testing and the concept of the molecular autopsy, the pathologist should use strict criteria in the diagnosis of CMP, and helpful for clinical geneticists and cardiologists who advise the family as to the possibility of a genetic disease.

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Sudden cardiac death in the young: A consensus statement on recommended practices for cardiac examination by pathologists from the Society for Cardiovascular Pathology

Cited by 25 publications

References 89 publications

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

An IoMT Enabled Iterative Artificial Bee Colony Approach Using Federated Learning for Detection of Heart Disease

Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening

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