The forensic pathological analysis of sport-related sudden cardiac death in Southern China.

Studies regarding sport-related sudden cardiac death (SCD) mainly focus on competitive athletes; similar data are rare in the general population, especially in China. We conducted a retrospective study (from September 1998 to August 2013) to investigate the aetiological distribution and epidemiological features of sport-related SCD in Southern China. Selections of cases are based on details, and two subgroups were established: one was the sport-related SCD group, and the other was the disease-free accident victims group which was matched with the sport-related SCD group in gender, age and year of death. Among the 3770 sudden-death cases, 1656 cases were SCD cases. A total of 65 cases (57 males) out of 1 656 SCD cases were sport-related. The age range of the 65 sport-related SCD cases was from 12 to 68 years old with a mean (35.92 ± 14.23) years old. Only two of these cases were competitive athletes. The most common circumstances of the 65 sport-related SCD cases were heavy physical labour (46.15%) and running (30.77%). The three leading forensic diagnoses were the coronary atherosclerotic disease (CAD, 28 cases), cardiomyopathy (CM, 14 cases) and sudden unexplained death (7 cases). CM was the most common forensic diagnosis in those ≤35 years old, while CAD was the most common one in those >35 years old. Left anterior descending in which atherosclerotic plaques was most commonly found was the principal artery branch associated with sport-related SCD. There was a statistically significant difference in the weight of hearts between the 65 sport-related SCD cases and 65 diseases-free accidental cases. This study highlights the need to attract public attention to sport-related SCD and to issue a prevention strategy to the public, and to make the SCD-related genetic sequencing a routine tool in both forensic pathological examination and clinic screening.

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Brugada syndrome (BrS) is an arrhythmogenic disorder which was first described in 1992. This disease is a channelopathy characterized by ST-segment elevations in the right precordial leads and is susceptible to sudden death. BrS is a fatal disease with gender and age preferences. It occurs mainly in young male subjects with a structurally normal heart and silently progresses to sudden death with no significant symptoms. The prevalence of BrS has been reported in the ranges of 5-20 per 10 000 people. The disease is more prevalent in Asia. Nowadays, numerous variations in 23 genes have been linked to BrS since the first gene SCN5A has been associated with BrS in 1998. Not only can clinical specialists apply these discoveries in risk assessment, diagnosis and personal medicine, but also forensic pathologists can make full use of these variations to conduct death cause identification. However, despite the progress in genetics, these associated genes can only account for approximately 35% of the BrS cases while the etiology of the remaining BrS cases is still unexplained. In this review, we discussed the prevalence, the genes associated with BrS and the application of molecular autopsy in forensic pathology. We also summarized the present obstacles, and provided a new insight into the genetic basis of BrS.