Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
J Am Coll Cardiol. 2019 Aug 13;74(6):759-770. doi: 10.1016/j.jacc.2019.05.062.
After sudden death occurs in the young, first-degree family members should undergo clinical screening for occult cardiac disease, but the diagnostic yield from screening is not well-defined in the United States.
The purpose of this study was to determine the clinical predictors of cardiac diagnosis in children referred for evaluation following a sudden death in the family.
Patients referred for a family history of sudden death were evaluated in a retrospective review from a tertiary pediatric referral center.
Among 419 pediatric relatives of 256 decedents, 27% of patients were diagnosed with a disease or had a clinical finding of uncertain significance. Patients were diagnosed with heritable cardiac disease in 39 cases (9.3%). Nonheritable cardiac disease was diagnosed in another 5.5% of patients. Clinical findings of uncertain significance were present in 52 patients (12.4%), including abnormal electrophysiological test results (41 of 52) or imaging test results (11 of 52). Among patients diagnosed with a heritable cardiac disease, the nearest affected relative was almost always a first-degree relative (37 of 39, 95%). The strongest predictors for a successful diagnosis in the patient were an abnormal electrocardiogram and a first-degree relationship to the nearest affected relative (odds ratios: 24.2 and 18.8, respectively).
Children referred for a family history of sudden death receive cardiac disease diagnoses (14%), but clinical findings of uncertain significance increase the challenge of clinical management. The importance of a diagnosis in first-degree affected relatives supports the clinical practice of testing intervening family members first when patients are second- or higher-degree relatives to the decedent.
年轻人发生猝死之后，一级亲属应当进行隐匿性心脏疾病的临床筛查，但美国尚未明确这种筛查的诊断率。
本研究旨在明确因家族性猝死而接受评估的儿童患者中，哪些临床特征与心脏诊断相关。
对一家三级儿科转诊中心的回顾性研究数据进行分析，患者均因家族性猝死史而接受评估。
在 256 名死者的 419 名儿科亲属中，27%的患者被诊断为某种疾病，或存在临床意义不确定的发现。39 例（9.3%）患者被诊断为遗传性心脏病。另有 5.5%的患者被诊断为非遗传性心脏病。52 例（12.4%）患者存在临床意义不确定的发现，包括异常电生理检查结果（41/52）或影像学检查结果（11/52）。在被诊断为遗传性心脏病的患者中，最近的受影响亲属几乎均为一级亲属（37/39，95%）。患者成功诊断的最强预测因素为异常心电图和与最近受影响亲属的一级亲属关系（比值比分别为 24.2 和 18.8）。
因家族性猝死史而接受评估的儿童患者会被诊断为某种心脏疾病（14%），但临床意义不确定的发现增加了临床管理的难度。一级亲属的诊断意义重大，这支持了当患者为死者二级或更高级亲属时，首先检测一级亲属的临床实践。
