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

Publication date: Available online 18 September 2019Source: Revista Portuguesa de Cardiologia (English Edition)Author(s): Sílvia Ribeiro, Luís Coelho, Katerina Puentes, Gabriel Miltenberger-Miltenyi, Bebiana Faria, Lucy Calvo, João Primo, Víctor Sanfins, António LourençoAbstractIn 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.ResumoEm até um terço dos casos de morte súbita, a autópsia médico-legal é “branca”, estando já contemplada nas recomendações internacionais a possibilidade da realização de autópsia molecular. A importância do teste genético post mortem prende-se com a identificação de doenças hereditá...

Source: Revista Portuguesa de Cardiologia - September 18, 2019 Category: Cardiology Source Type: research