5
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male

      case-report

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Ischemic heart disease (IHD) is the leading cause of sudden cardiac death (SCD) and often non-thrombosed severe coronary stenoses with or without myocardial scars are detected. Left dominant arrhythmogenic cardiomyopathy (LDAC) is a life-threating rare disease which has been more thoroughly studied in the last 10 years. The macroscopic study of an SCD victim was conducted and re-evaluated 9 years later. The cardiological work-up in his first-degree relatives initially comprised an electrocardiogram (ECG) and an echocardiogram. When they were re-evaluted 9 years later, a cardiac magnetic resonance, an ECG-monitoring, an exercise testing and a genetic study were performed and the pedigree was extended accordingly. In 2008, an IHD was suspected in the sports-triggered SCD of a 37-year-old man upon the postmortem (75% stenosis of the left main and circumflex coronary arteries; the subepicardial left ventricular fibrofatty infiltration with mild myocardial degeneration was assumed to be a past myocardial infarction). No cardiomyopathy was identified in any of the two proband’s sisters. Nine years thereafter, distant relatives were diagnosed with LDAC due to a pathogenic desmoplakin mutation. The reanalysis of the two sisters showed ventricular arrhythmias in one of them without structural heart involvement and the reviewed postmortem of the proband was reclassified as LDAC based on the fibrofatty infiltration; both were mutation carriers. The completion of the family study on 19 family members yielded one SCD due to LDAC (the proband), three living patients diagnosed with LDAC (two with a defibrillator), one mutation carrier without structural ventricular involvement, and 14 healthy relatives (who were discharged) with a very good co-segregation of the mutation. Although rare, LDAC exists and sometimes its differential diagnosis with IHD has to be faced. Modifying previous postmortem misdiagnoses can help family screening to further prevent SCDs.

          Related collections

          Most cited references14

          • Record: found
          • Abstract: found
          • Article: not found

          Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

          Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family screening and genetic testing in families with a cardiomyopathy, and to provide key messages and suggestions for clinicians involved in their management.
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            Task Force on Sudden Cardiac Death of the European Society of Cardiology.

              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Guidelines for autopsy investigation of sudden cardiac death.

              Although sudden cardiac death is one of the most important mode of death in Western Countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed, and the accurate diagnosis of the causes of sudden cardiac death is now of particular importance. Pathologists are responsible for determining the precise cause of sudden death but there is considerable variation in the way in which they approach this increasingly complex task. The Association for European Cardiovascular Pathology developed guidelines, which represent the minimum standard that is required in the routine autopsy practice for the adequate assessment of sudden cardiac death, including not only a protocol for heart examination and histological sampling, but also for toxicology and molecular investigation. Our recommendations apply to university medical centres, regional and district hospitals and all types of forensic medicine institutes. If a uniform method of investigation is adopted throughout the European Union, this will lead to improvements in standards of practice, allow meaningful comparisons between different communities and regions and, most importantly, permit future trends in the patterns of disease causing sudden death to be monitored.
                Bookmark

                Author and article information

                Journal
                Forensic Sci Res
                Forensic Sci Res
                TFSR
                tfsr20
                Forensic Sciences Research
                Taylor & Francis
                2096-1790
                2471-1411
                2019
                19 August 2019
                : 4
                : 3 , Special Issue on Sudden Cardiac Death; Guest Editor: Joaquín Lucena Romero
                : 274-279
                Affiliations
                [a ]Servicio de Patología , Instituto de Medicina Legal y Ciencias Forenses de Valencia , Valencia, España;
                [b ]Unidad de Valoración del Riesgo de Muerte Súbita Familiar and Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe) , Instituto de Investigación Sanitaria La Fe , Valencia, España;
                [c ]Servicio de Cardiología , Hospital Universitario y Politécnico La Fe , Valencia, España;
                [d ]Unidad Genómica , Instituto de Investigación Sanitaria La Fe , Valencia, España
                Author notes
                CONTACT Esther Zorio zorio_est@ 123456gva.es
                Author information
                http://orcid.org/0000-0003-0968-1992
                http://orcid.org/0000-0003-3608-4210
                Article
                1616247
                10.1080/20961790.2019.1616247
                6713184
                12dfaabb-dc4b-43e8-b5ae-b3b23cf19032
                © 2019 The Author(s). Published by Taylor & Francis Group on behalf of the Academy of Forensic Science.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 04 December 2018
                : 31 March 2019
                : 12 April 2019
                Page count
                Figures: 3, Tables: 3, Pages: 10, Words: 3792
                Funding
                Funded by: Ministerio de Economía y Competitividad
                Award ID: DPI2015-70821-R
                Funded by: Instituto de Salud Carlos III 10.13039/501100004587
                Funded by: FEDER Union Europea, Una forma de hacer Europa 10.13039/501100002924
                Award ID: RD12/0042/0029
                Award ID: PI14/01477
                Award ID: PI18/0158
                This work was supported by grants from the Ministerio de Economía y Competitividad [grant number DPI2015-70821-R], Instituto de Salud Carlos III and FEDER Union Europea, Una forma de hacer Europa [grant numbers RD12/0042/0029, PI14/01477 and PI18/01582] and La Fe Biobank [grant number PT17/0015/0043].
                Categories
                Case Reports

                forensic sciences,forensic pathology,ischemic heart disease,arrhythmogenic cardiomyopathy,family study

                Comments

                Comment on this article