[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Forensic medicine](https://durgical.com/en/forensic-medicine/) › [Thanatology](https://durgical.com/en/forensic-medicine/areas/thanatology/) › The molecular autopsy and inherited cardiac disease # The molecular autopsy and inherited cardiac disease - Method The molecular autopsy is postmortem genetic testing that looks for an inherited disease when the autopsy does not explain a sudden death. Updated Nov 13, 2026 ## Key points - Main indication: unexplained sudden death of a young person with a normal heart and negative toxicology. - It looks for channelopathies (long QT, Brugada, catecholaminergic ventricular tachycardia) and cardiomyopathy genes. - Sample: EDTA blood and frozen tissue; paraffin-embedded tissue is not ideal. - Its greatest value is cascade testing of relatives. - Variants of uncertain significance cannot support conclusions. ## What it is The molecular autopsy (guidelines prefer the term postmortem genetic testing) analyses the dead person's DNA for variants in ion-channel and cardiomyopathy genes. It is indicated above all in sudden deaths of young people with a structurally normal heart and negative toxicology, where a channelopathy is suspected (long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia), and when the autopsy shows an inherited cardiomyopathy. Its greatest value is for the living: it allows cascade testing of relatives. It requires the right sample to have been kept at autopsy and expert interpretation, because many variants are of uncertain significance. ## Accuracy and limits - Formalin-fixed, paraffin-embedded samples are not ideal for DNA. - A variant of uncertain significance must not be used for medico-legal conclusions or to treat relatives. - European guidelines recommend referring first-degree relatives if the cause remains unexplained up to age 40, or if there is an inherited cardiomyopathy at any age. - Protocols and sample quality vary between centres, so standardisation is called for. - A negative result does not rule out an inherited disease. ## What it is based on - Channelopathies leave no trace in the heart: only DNA can reveal them. - Inherited cardiomyopathies (hypertrophic, arrhythmogenic, dilated) are visible at autopsy, but the gene confirms the family's risk. - Sequencing gene panels chosen according to the findings is the most widely used method. ## How it is applied - At autopsy, keep EDTA blood and a piece of heart or spleen frozen. - Complete the heart examination with histology and toxicology first. - Select the cases: young people with unexplained sudden death or with an inherited cardiomyopathy. - Analyse a gene panel chosen by the findings, in an experienced laboratory. - Classify each variant as pathogenic, likely pathogenic or of uncertain significance. - Refer first-degree relatives to cardiology and genetic counselling. ## Next step: what to do and document - In every sudden death of a young person, ask for EDTA blood and frozen tissue to be kept at autopsy. - Ask the family about sudden deaths, fainting, seizures or unexplained drownings in other relatives. - Explain to the family, in plain language, why first-degree relatives should be screened, and refer them to cardiology. - Treat genetic information as sensitive data: share it with the family with their consent and in confidence. - If testing cannot be done straight away, record in the report which samples were kept and where they are. ## Common mistakes - Not keeping EDTA blood or frozen tissue and relying on paraffin only. - Interpreting a variant of uncertain significance as the cause of death. - Requesting genetics without first ruling out poisoning and other causes. - Not informing the family or referring them for screening. ## Test yourself Think of the answer, then tap the question to see it. ## When is a molecular autopsy indicated? In unexplained sudden deaths of young people with a normal heart and negative toxicology, and when the autopsy shows an inherited cardiomyopathy. ## Which samples are kept at autopsy for genetic testing? EDTA blood and a frozen piece of heart or spleen; paraffin-embedded tissue is not ideal. ## Why can a channelopathy only be diagnosed by genetics after death? Because it is an electrical disorder that leaves no visible lesion in the heart or on histology. ## Who benefits most from a molecular autopsy? The living relatives, who can undergo cascade testing and receive prevention. [Add to my cards (4)](https://durgical.app/estudiar/?add=/en/forensic-medicine/the-molecular-autopsy-and-inherited-cardiac-disease/) ## Elsewhere in DurgiPedia - [Genetic tests: what each one finds](https://durgical.com/en/biochemistry/topics/genetic-tests-what-each-one-finds/) - [Arrhythmias and sudden cardiac death](https://durgical.com/en/general-pathology/arrhythmias-and-sudden-cardiac-death/) - [Ley 1581 de 2012: personal data in health](https://durgical.com/en/medical-ethics/ley-1581-de-2012-personal-data-in-health/) ## Connections ## Related 3 - [Sudden cardiac death at autopsy](https://durgical.com/en/forensic-medicine/sudden-cardiac-death-at-autopsy/) - [Sudden unexpected death in adults and infants](https://durgical.com/en/forensic-medicine/sudden-unexpected-death-in-adults-and-infants/) - [DNA identification: basics](https://durgical.com/en/forensic-medicine/dna-identification-basics/) ## Related conditions 5 - [Long QT syndrome and torsades de pointes](https://durgical.com/en/conditions/long-qt-syndrome-and-torsades-de-pointes/) - [Brugada syndrome](https://durgical.com/en/conditions/brugada-syndrome/) - [Hypertrophic cardiomyopathy](https://durgical.com/en/conditions/hypertrophic-cardiomyopathy/) - [Dilated cardiomyopathy](https://durgical.com/en/conditions/dilated-cardiomyopathy/) - [Sudden infant death syndrome (SIDS)](https://durgical.com/en/conditions/sudden-infant-death-syndrome/) [← All of forensic medicine](https://durgical.com/en/forensic-medicine/) Educational content on forensic and legal medicine; not legal advice and no substitute for the technical guides of Colombia's National Institute of Legal Medicine and Forensic Sciences. Laws change: each page links the official text and says when it was last checked. For a real case, follow the guide in force and ask the competent authority. Sources: [Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology](https://pmc.ncbi.nlm.nih.gov/articles/PMC5711979/) (Virchows Archiv (PMC), 2017); [New Insights on Molecular Autopsy in Sudden Death: A Systematic Review](https://pmc.ncbi.nlm.nih.gov/articles/PMC11171636/) (Diagnostics (PMC), 2024); [Autopsy and sudden death](https://pmc.ncbi.nlm.nih.gov/articles/PMC10132616/) (European Heart Journal Supplements (PMC), 2023). ## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake Representative model, for educational purposes only. --- Source: https://durgical.com/en/forensic-medicine/the-molecular-autopsy-and-inherited-cardiac-disease/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/forensic-medicine/the-molecular-autopsy-and-inherited-cardiac-disease/