Is there progress in the autopsy diagnosis of sudden unexpected death in adults?

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Abstract

Sudden death is now currently described as natural unexpected death occurring within 1 h of new symptoms. Most studies on the subject focused on cardiac causes of death because most of the cases are related to cardiovascular disease, especially coronary artery disease. The incidence of sudden death varies largely as a function of coronary heart disease prevalence and is underestimated. Although cardiac causes are the leading cause of sudden death, the exact incidence of the other causes is not well established because in some countries, many sudden deaths are not autopsied. Many risk factors of sudden cardiac death are identified: age, gender, heredity factors such as malignant mutations, left ventricular hypertrophy and left ventricle function impairment.

The role of the police surgeon in the investigation of sudden death is very important. This investigation requires the interrogation of witnesses and of the family members of the deceased. The interrogation of physicians of the rescue team who attempted resuscitation is also useful. Recent symptoms before death and past medical history must be searched. Other sudden deaths in the family must be noted. The distinction between sudden death at rest and during effort is very important because some lethal arrhythmia are triggered by catecholamines during stressful activity. The type of drugs taken by the deceased may indicate a particular disease linked with sudden death.

Sudden death in the young always requires systematic forensic autopsy performed by at least one forensic pathologist. According to recent autopsy studies, coronary artery disease is still the major cause of death in people aged more than 35 years. Cardiomyopathies are more frequently encountered in people aged less than 35 years. The most frequent cardiomyopathy revealed by sudden death is now arrhythmogenic right ventricular cardiomyopathy also known simply as right ventricular cardiomyopathy (RVC).

The postmortem diagnosis of cardiomyopathies is very important because the family of the deceased will need counseling and the first-degree relatives may undergo a possible screening to prevent other sudden deaths. In each case of sudden death, one important duty of the forensic pathologist is to inform the family of all autopsy results within 1 month after the autopsy.

Most of the recent progress in autopsy diagnosis of sudden unexpected death in the adults comes from molecular biology, especially in case of sudden death without significant morphological anomalies. Searching mutations linked with functional cardiac pathology such as long-QT syndrome, Brugada syndrome or idiopathic ventricular fibrillation is now the best way in order to explain such sudden death. Moreover, new syndromes have been described by cardiologists, such as short-QT syndrome and revealed in some cases by a sudden death. Molecular biology is now needed when limits of morphological diagnosis have been reached.

Introduction

Sudden death is currently described as natural, unexpected death occurring within 1 h of the onset of final symptoms [1]. The time elapsing between the onset of final symptoms and death is controversial, settled at 24, 6 or 1 h according to different definitions. However, such determination is often useless because sudden death is unwitnessed in about 40% of the cases [2], for example, when it occurs during sleep. The time period between onset of symptoms and death is consequently unknown. Most often sudden deaths have a cardiovascular cause when this time period is short [1].

From a forensic point of view, sudden death is mainly defined as rapid, unexpected and natural death. Violent causes, including toxic causes, should be excluded in any case, but unfortunately still appear in recently published sudden death series. Causes of sudden death are mainly represented by cardiovascular diseases, although extra cardiac causes may be encountered. The most frequent causes of sudden death are listed in Table 1. In this paper, we focused on causes for which new methods have been used and showed interest for the postmortem diagnosis.

Sudden cardiac death accounts for approximately 300,000 deaths per year in the United States and therefore is a major public health problem [3]. The incidence of sudden death varies largely as a function of coronary artery disease (CAD) prevalence. This represents an incidence of 0.1–0.2% per year in the adult population. The global incidence is underestimated because many sudden deaths are not witnessed [1]. Although cardiac causes are the leading cause of sudden death, especially CAD, the exact incidences of the other causes, particularly extra cardiac causes are not well estimated because sudden death cases are not systematically autopsied [1].

Many risk factors of sudden cardiac death are now identified [3]: age with a peak incidence between 45 and 75 years old, gender with a male preponderance, heredity factors such as high-risk (or so-called malignant) mutations in case of cardiomyopathy, for example, left ventricular hypertrophy and left ventricle function impairment (ejection fraction <30–35%).

Section snippets

Sudden adult death investigation

Sudden adult death scene investigation requires the interrogation of the witnesses and family members of the deceased. The interrogation of physicians of the rescue team who attempted resuscitation is also useful. Recent symptoms before death and past medical history must be sought. Prodromal symptoms are unfortunately often non-specific, and even those taken to indicate ischemia (chest pain), a tachyarrhythmia (palpitations), or congestive heart failure symptoms (dyspnea) can only be

Progress in sudden adult cardiac death with structural heart disease

As CAD is the leading cause of sudden adult death, the forensic pathologist needs to know how to make such postmortem diagnosis, as most cases of sudden death do not actually involve myocardial infarction in the majority of the cases but are arrhythmic deaths such as myocardial scars causing re-entry tachycardias. Coronary arteries should be cut in cross-section at 5 mm intervals. Calcified vessels that cannot be readily cut with a scalpel should be stripped off the heart and decalcified for at

Progress in sudden adult unexplained death

Sudden adult death may remain unexplained after a complete autopsy. In some of the cases, very focal heart abnormalities can be overlooked if no conduction system analysis is performed. Recent publications underlined the importance of systematic conduction system analysis in sudden adult death, with new simplified and time-efficient methods introduced for forensic routine practice [25], [26], allowing the detection of major abnormalities such as severe narrowing (≥75%) of the atrioventricular

Conclusion

In conclusion, the progress in autopsy diagnosis of sudden death depends, respectively, on death scene investigation, number and quality of autopsies and use of complementary techniques, especially molecular biology. Indeed, molecular autopsy is now needed to overcome autopsy diagnosis difficulties, although molecular testing is not yet available in the daily work of the forensic pathologist. But above all, improvement depends on progress provided by the new discovered methods of clinical,

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