医学
Brugada综合征
钠通道
突变
内科学
错义突变
基因突变
心脏病学
钠通道阻滞剂
弗莱卡奈德
导航1.5
基因
心源性猝死
先证者
作者
Shyh-Ming Chen,Chi-Tai Kuo,Kuo-Hon Lin,Fu-Tain Chiang
摘要
We describe a 45-year-old Taiwanese man with specific features of Brugada syndrome but no clinical features of structural heart disease. He was successfully treated with an implantable cardioverter-defibrillator. His electrocardiogram (ECG) patterns changed intermittently. Alpha-adrenoceptor stimulation and beta-adrenoceptor blockade augmented the characteristic ST-segment elevation, whereas alpha-adrenoceptor blockade and beta-adrenoceptor stimulation mitigated the ST-segment elevation. Intravenous procainamide administration did not aggravate ST-segment elevation when ECG had shown coved ST elevation in the right precordial leads. Molecular study did not reveal the same mutations in the cardiac sodium channel gene (SCN5A) as previously reported in Brugada syndrome. This case demonstrates the genetic heterogeneity of SCN5A in Brugada syndrome.
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