期刊
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
卷 121, 期 4, 页码 245-257出版社
SPRINGER
DOI: 10.1007/s00414-005-0069-3
关键词
sudden death; infants; arrhythmias; genetics; heart disease
Genetically transmitted diseases are an important cause of juvenile sudden cardiac death (SCD). In a considerable proportion of individuals in which a medicolegal investigation is performed, structural heart disease is absent, and the medical examiner fails to discover an adequate cause of death. In such cases, an inherited arrhythmogenic disease should be considered, which manifests with life-threatening ventricular tachycardia or SCD. Molecular diagnosis is progressively becoming an important tool for these questions. Therefore, postmortem genetic testing (molecular autopsy) should be considered as a part of the comprehensive medicolegal investigation in SCD cases without apparent structural heart disease. It will have implications not only for the deceased individual but also for living family members in preventing (further) cardiac events by expert counseling, appropriate lifestyle adjustment, and adequate treatment, if available.
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