医学
心脏病学
内科学
心动过缓
心脏传导阻滞
突变
心电图
心率
遗传学
基因
血压
生物
作者
Ahmed El‐Medany,Shahid Aziz,Edward Duncan
出处
期刊:Case Reports
[BMJ]
日期:2023-01-01
卷期号:16 (1): e252523-e252523
标识
DOI:10.1136/bcr-2022-252523
摘要
A woman in her 40s was admitted following syncope. The 12-lead ECG showed atrial fibrillation with slow ventricular response and suspected complete atrioventricular (AV) block. Cardiac monitoring demonstrated non-sustained monomorphic ventricular tachycardia (VT). Her medical history included surgical repair of an atrial septal defect (ASD) aged 4 years. The patient's mother died suddenly in her early 50s and also had an ASD. Given the patient's syncope, background of familial sudden cardiac death (SCD), suspicion of complete AV block and non-sustained VT, she received an implantable cardiac defibrillator (ICD). She underwent genetic testing, revealing a heterozygous NKX2-5 genetic mutation. The signature phenotype in NKX2-5 mutations is ASD with AV conduction disturbance and an increased risk of SCD secondary to ventricular arrhythmias or severe bradycardia. SCD has been described in NKX2-5 mutation carriers despite functioning permanent pacemakers (PPMs). Therefore, we propose implantation of a preventive ICD, as opposed to a PPM.
科研通智能强力驱动
Strongly Powered by AbleSci AI