期刊
JOURNAL OF ARRHYTHMIA
卷 32, 期 5, 页码 359-365出版社
WILEY
DOI: 10.1016/j.joa.2015.09.010
关键词
Sudden cardiac death; Postmortem; Molecular autopsy; Genetics; Specialized multidisciplinary clinic
资金
- National Health and Medical Research Council (NHMRC) Practitioner Fellowship [1059156]
- NHMRC
- National Heart Foundation of Australia Early Career Fellowship [1036756]
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM). In up to 40% of young SCD victims (defined as 1-40 years old, excluding sudden unexplained death in infancy from 0 to 1 years, referred to as SIDS), no cause of death is identified at postmortem [so-called autopsy negative or sudden arrhythmic death syndrome (SADS)]. Management of families following a SCD includes the identification of the cause of death, based either on pre morbid clinical details or the pathological findings at the postmortem. When no cause of death is identified, genetic testing of DNA extracted from postmortem tissue (the molecular autopsy) may identify a cause of death in up to 30% of SADS cases. Targeted clinical testing in a specialized multi-disciplinary clinic in surviving family members combined with the results from genetic testing, provide the optimal setting for the identification of relatives who may be at risk of having the same inherited heart disease and are therefore also predisposed to an increased risk of SCD. (C) 2015 Japanese Heart Rhythm Society. Published by Elsevier B.V.
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