Postmortem genetic testing: Clinical diagnosis is not ended by the patient’s death

AbstractIn up to one-third of cases of sudden death, the medico-legal autopsy finding is inconclusive, and the option to perform a molecular autopsy is covered in international guidelines. The importance of postmortem genetic testing lies in its ability to identify hereditary diseases, often those w...

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Bibliographic Details
Published in:Revista portuguesa de cardiologia (English ed.) 2019-07, Vol.38 (7), p.503-509
Main Authors: Ribeiro, Sílvia, Coelho, Luís, Puentes, Katerina, Miltenberger-Miltenyi, Gabriel, Faria, Bebiana, Calvo, Lucy, Primo, João, Sanfins, Víctor, Lourenço, António
Format: Article
Language:English
Subjects:
Autopsy
Autópsia
Brugada syndrome
Canalopatias
Cardiovascular
Channelopathies
Postmortem genetic testing
Síndrome de Brugada
Teste genético post mortem
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Summary:AbstractIn up to one-third of cases of sudden death, the medico-legal autopsy finding is inconclusive, and the option to perform a molecular autopsy is covered in international guidelines. The importance of postmortem genetic testing lies in its ability to identify hereditary diseases, often those with an autosomal dominant transmission pattern, and, through consultations and screening of relatives, to identify family members with a pathogenic mutation, who are often asymptomatic, providing an opportunity to change the course of their lives. The authors present three clinical cases that highlight the importance of postmortem genetic studies and family studies, as well as the integration of the data obtained in a cardiology consultation, which may be for arrhythmology, coronary disease or cardiomyopathy, depending on the specific condition. This could modify the course of the disease in many relatives.
ISSN:2174-2049
2174-2049
DOI:10.1016/j.repce.2019.09.001