hrvatski

Genetic testing, incidence and prevention of sudden cardiac death in Croatia

Sudden cardiac death (SCD), especially among the young, is frequently caused by inherited cardiac diseases. Most of them have an autosomal-dominant pattern of inheritance and first degree relatives are at risk of developing the same disease. We hypothesize that the frequency of inherited cardiac diseases responsible for SCD among adults in Croatia is similar to those observed in other countries and our aim is to evaluate the proportion of deaths that may be attributed to inherited cardiac disease in Croatia by comparison with other studies. Examination of relatives of SCD victims in other countries showed that inherited cardiac disease was present in 40–53% of the families (Behr et al.2008 ; Tan et al.2005 ; Winkel et al.2010). Furthermore, one quarter of first-degree relatives were found likely to be affected. The underlying diseases prevalently found were long-QT-syndrome, Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. The Croatian Health Service reports on average 140 unexplained death cases per year (2008–2010). SCD cases, in these reports, are grouped with deaths from other cardiac insufficiencies and this group averages 4573 deaths per year. Hence, there are potentially 2498 deaths from inherited cardiac disease and most probably in half of the families there are relatives that are at risk of SCD. These data highlight the importance of the correct evaluation of the number of SCD cases from inherited cardiac disease in Croatia. Accurate diagnosis of SCD and identification of relatives with increased risk of SCD could prevent major cardiac events, improve risk management and it should be promoted in Croatia. We propose mutational analysis of genes involved in arrhythmic sudden death to be introduced in Croatia postmortem and, coupled with clinical examination, in the victims’ relatives. This approach would identify carriers at risk and ultimately decrease the incidence of SCD.

genetic testing; sudden cardiac death; prevention

nije evidentirano

engleski

Genetic testing, incidence and prevention of sudden cardiac death in Croatia

Sudden cardiac death (SCD), especially among the young, is frequently caused by inherited cardiac diseases. Most of them have an autosomal-dominant pattern of inheritance and first degree relatives are at risk of developing the same disease. We hypothesize that the frequency of inherited cardiac diseases responsible for SCD among adults in Croatia is similar to those observed in other countries and our aim is to evaluate the proportion of deaths that may be attributed to inherited cardiac disease in Croatia by comparison with other studies. Examination of relatives of SCD victims in other countries showed that inherited cardiac disease was present in 40–53% of the families (Behr et al.2008 ; Tan et al.2005 ; Winkel et al.2010). Furthermore, one quarter of first-degree relatives were found likely to be affected. The underlying diseases prevalently found were long-QT-syndrome, Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. The Croatian Health Service reports on average 140 unexplained death cases per year (2008–2010). SCD cases, in these reports, are grouped with deaths from other cardiac insufficiencies and this group averages 4573 deaths per year. Hence, there are potentially 2498 deaths from inherited cardiac disease and most probably in half of the families there are relatives that are at risk of SCD. These data highlight the importance of the correct evaluation of the number of SCD cases from inherited cardiac disease in Croatia. Accurate diagnosis of SCD and identification of relatives with increased risk of SCD could prevent major cardiac events, improve risk management and it should be promoted in Croatia. We propose mutational analysis of genes involved in arrhythmic sudden death to be introduced in Croatia postmortem and, coupled with clinical examination, in the victims’ relatives. This approach would identify carriers at risk and ultimately decrease the incidence of SCD.

genetic testing; sudden cardiac death; prevention

nije evidentirano