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Advances in the prevention of sudden cardiac death in the youngSignal Transduction Group, Centenary Institute, Sydney, Australia r.shephard{at}centenary.org.au
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute; Department of Cardiology, Royal Prince Alfred Hospital; and Faculty of Medicine, University of Sydney, Sydney, Australia, c.semsarian{at}centenary.org.au
Sudden cardiac death (SCD) is a tragic and devastating complication of a number of cardiovascular diseases. Although coronary artery disease accounts for a majority of these deaths across all ages, many other aetiologies contribute to this problem when it occurs in the young (age
Key Words: sudden cardiac death • screening • genes • family • multidisciplinary
This version was published on April
1, 2009 Therapeutic Advances in Cardiovascular Disease, Vol. 3, No. 2,
145-155 (2009) |
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35 years), where coronary artery disease is far less common. Specifically, genetic heart disorders are an important cause of SCD in the young. While pharmacological therapies have made some impact on prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. In addition, the awareness that most causes of SCD in the young are inherited, means family screening of relatives of young SCD victims allows identification of previously unrecognised at-risk individuals thereby enabling prevention of SCD in relatives. The role of genetic testing, both in living affected individuals and in the setting of a `molecular autopsy', is emerging as a key factor in early diagnosis of an underlying cardiovascular genetic disorder. Understanding the genetic basis of SCD, investigating the molecular mechanisms that lead from the gene defect to the clinical phenotype, and elucidating the specific environmental triggers for SCD, will most likely lead to further key improvements in the prevention of SCD in the young.