Tester David J, Ackerman Michael J
Division of Cardiovascular Diseases, Department of Medicine, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Guggenheim 501, Rochester, MN, USA.
Pediatr Cardiol. 2012 Mar;33(3):461-70. doi: 10.1007/s00246-012-0160-8. Epub 2012 Feb 4.
Sudden cardiac death (SCD) is one of the most common causes of death in developed countries, with most SCDs involving the elderly, and structural heart disease evident at autopsy. Each year, however, thousands of sudden deaths involving individuals younger than 35 years of age remain unexplained after a comprehensive medicolegal investigation that includes an autopsy. In fact, several epidemiologic studies have estimated that at least 3% and up to 53% of sudden deaths involving previously healthy children, adolescents, and young adults show no morphologic abnormalities identifiable at autopsy. Cardiac channelopathies associated with structurally normal hearts such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS) yield no evidence to be found at autopsy, leaving coroners, medical examiners, and forensic pathologists only to speculate that a lethal arrhythmia might lie at the heart of a sudden unexplained death (SUD). In cases of autopsy-negative SUD, continued investigation through either a cardiologic and genetic evaluation of first- or second-degree relatives or a molecular autopsy may elucidate the underlying mechanism contributing to the sudden death and allow for identification of living family members with the pathogenic substrate that renders them vulnerable, with an increased risk for cardiac events including syncope, cardiac arrest, and sudden death.
心脏性猝死（SCD）是发达国家最常见的死因之一，大多数SCD病例涉及老年人，尸检时可见结构性心脏病。然而，每年仍有数千例35岁以下个体的猝死在包括尸检在内的全面法医学调查后仍无法解释。事实上，多项流行病学研究估计，在既往健康的儿童、青少年和年轻人的猝死病例中，至少3%至高达53%在尸检时未发现可识别的形态学异常。与结构正常心脏相关的心脏离子通道病，如长QT综合征（LQTS）、儿茶酚胺能多形性室性心动过速（CPVT）和Brugada综合征（BrS），在尸检时找不到证据，使得验尸官、法医和法医病理学家只能推测致命性心律失常可能是不明原因猝死（SUD）的核心原因。在尸检阴性的SUD病例中，通过对一级或二级亲属进行心脏和基因评估或分子尸检继续进行调查，可能会阐明导致猝死的潜在机制，并能够识别携带致病基因的在世家庭成员，这些基因使他们易患心脏事件，包括晕厥、心脏骤停和猝死，从而增加发病风险。
