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Arrhythmias
Sudden death: managing the family, the role of genetics
  1. Ramon Brugada
  1. Correspondence to Dr Ramon Brugada, Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona-IdIBGi and Universitat de Girona, C/ Pic de Peguera 15, 17003 Girona, Spain; ramon{at}brugada.org

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Sudden cardiac death (SCD) is defined as death from a cardiac cause occurring soon after the onset of symptoms.1 SCD is a major contributor to mortality in industrialised nations, affecting ∼800 000 individuals annually in the western world, and causing more deaths than AIDS, lung and breast cancer, and stroke together.2 The annual incidence of SCD increases according to the presence of prior cardiac disease, being 1/1000 per year in the general population, 5% per year in the patient with a previous coronary event, 15% in the patient with an ejection fraction <35%, and 20% in the cardiac arrest survivor.3

SCD often becomes a diagnostic challenge for clinicians. It is not uncommon to observe that the SCD victim had a previously normal medical examination. Similarly, in the situation when the patient survived the episode, often the investigations do not reach a concluding reason for the event. These scenarios substantiate the present limitations of the clinical tests, both in the identification of parameters of risk and in determining an aetiology for the arrhythmia.

When SCD affects a supposedly healthy individual, an autopsy is usually requested for legal reasons. The autopsy may become the irrefutable diagnostic tool when macro- and microscopic analyses reveal histopathological abnormalities. The most common diagnosis in these conclusive cases is coronary artery disease, which is present in 80% of SCD cases. Of the remainder, a significant 15–19% of cases are caused by cardiomyopathies. However, on average one third of autopsies are not conclusive—they cannot reach a diagnosis, as they do not identify a pathologically defined cause of the death. The postmortem diagnosis can therefore reach a dead end in a significant percentage of individuals. In these instances, these deaths are classified as ‘natural’ or arrhythmogenic. Therefore, similar to the above mentioned challenges for the clinicians, forensic …

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