Unidades multidisciplinares en el estudio y prevención de la muerte súbita por cardiopatías familiares

  1. Pilar Molina Aguilar
  2. Juan Giner Blasco
  3. Isabel Izquierdo Macian
  4. Luis Martínez-Dolz
  5. Roberto Barriales Villa
  6. Esther Zorio Grima
Journal:
Revista española de medicina legal: órgano de la Asociación Nacional de Médicos Forenses

ISSN: 0377-4732

Year of publication: 2018

Volume: 44

Issue: 1

Pages: 46-52

Type: Article

DOI: 10.1016/J.REML.2017.06.007 DIALNET GOOGLE SCHOLAR

More publications in: Revista española de medicina legal: órgano de la Asociación Nacional de Médicos Forenses

Sustainable development goals

Abstract

Cardiac diseases often underlie sudden deaths. Sudden death has a great social and economic impact and generates loads of media attention. When it occurs in young people, it is usually due to genetic causes (inherited heart diseases). This group includes cardiomyopathies, channelopathies, and familial thoracic aortic aneurysm/dissection. Inherited heart conditions are rare diseases in terms of prevalence and little knowledge is still available from most of them, so their management requires specialised and multidisciplinary training. Sudden death usually occurs in the out-of-hospital setting, and there has to be a forensic autopsy. These autopsies should be performed according to the minimum quality standards of the European guidelines. The clear genetic background justifies the need for a family screening to enable early diagnosis and also to rule it out in other family members at risk using a multidisciplinary approach offering personalised medicine to the affected families. In addition to medical issues, this scheme enables the provision of early psychological support and genetic counseling to plan new gestations. In Spain there is a great legal void in the approach to sudden death and its prevention, with a lack of homogenisation among the different counties, both at the judicial and healthcare levels due to the variable recognition of acquired skills and to the differences in the judicial and territorial forensic organisation throughout the country. It would be desirable that the consultative panels of both Ministries (Health and Justice) developed a comprehensive plan to ensure the quality in post-mortem studies and a proper subsequent clinical and genetic family study in public health services. Thus, the clinical-preventive potential of the autopsies would take shape and become a clear benefit for the affected families and for the society in general. This measure would also favour the teaching and the research of inherited cardiac diseases, which is of paramount importance to improve the current knowledge in this field, so unknown and so devastating.

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Data source: Dialnet