Evidence map›Paper›PMID 36844202›Full record

ReviewFrontiers in medicine2023

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

Estefanía Martínez-Barrios, Simone Grassi, María Brión, Rocío Toro, Sergi Cesar, José Cruzalegui, Mònica Coll, Mireia Alcalde, Ramon Brugada, Andrea Greco and 5 more

Abstract readReview
In one paragraph

Review in Frontiers in medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  9. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
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  19. Journal of clinical medicine · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Estefanía Martínez-BarriosPediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain.
Simone GrassiForensic Medical Sciences, Department of Health Science, University of Florence, Florence, Italy.
María BriónFamily Heart Disease Unit, Cardiology Service, Santiago de Compostela University Hospital, Santiago de Compostela, Spain.
Rocío ToroMedicine Department, School of Medicine, University of Cádiz, Cádiz, Spain.
Sergi CesarPediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain.
José CruzaleguiPediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain.
Mònica CollMedical Science Department, School of Medicine, University of Girona, Girona, Spain.
Mireia AlcaldeMedical Science Department, School of Medicine, University of Girona, Girona, Spain.
Ramon BrugadaCentro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain.
Andrea GrecoArrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
María Luisa Ortega-SánchezForensic Pathology Department, Institut de Medicina Legal i Ciències Forenses de Catalunya (IMLCFC), Barcelona, Spain.
Eneko BarberiaForensic Pathology Department, Institut de Medicina Legal i Ciències Forenses de Catalunya (IMLCFC), Barcelona, Spain.
Antonio OlivaSection of Legal Medicine, Department of Health Surveillance and Bioethics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Georgia Sarquella-BrugadaPediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain.
Oscar CampuzanoCentro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

forensicgeneticsinherited arrhythmogenic syndromesmolecular autopsysudden cardiac death

Identifiers

PMID36844202
PMCPMC9950119

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.