儿科和家族性遗传性心律失常综合征：长 QT 综合征 3 型以外的 SCN5A 相关疾病：临床体征和症状。
Pediatric and Familial Genetic Arrhythmia Syndromes: SCN5A-Related Disorders When It Is Not Long QT Type 3: Clinical Signs and Symptoms.
机构信息
Division of Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, 225 East Chicago Avenue, Box 21, Chicago, IL 60611, USA.
Department of Pediatrics, Division of Cardiology, Texas Children's Hospital and Baylor College of Medicine, 6651 Main Street, Houston, TX 77003, USA.
出版信息
Card Electrophysiol Clin. 2024 Jun;16(2):211-218. doi: 10.1016/j.ccep.2023.10.007. Epub 2023 Nov 10.
The following case series presents three different pediatric patients with SCN5A-related disease. In addition, family members are presented to demonstrate the variable penetrance that is commonly seen. Identifying features of this disease is important, because even in the very young, SCN5A disorders can cause lethal arrhythmias and sudden death.
以下病例系列介绍了三种不同的 SCN5A 相关疾病的儿科患者。此外，还介绍了家族成员的情况，以说明常见的可变外显率。识别这种疾病的特征很重要，因为即使在非常年幼的患者中，SCN5A 疾病也可能导致致命性心律失常和猝死。
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