病态窦房结综合征合并左室心肌致密化不全1例  

Sick sinus syndrome combined with left ventricular noncompaction:a case report

作　　者：贾鹏[1] 袁莉[2] 朱峰[1] JIA Peng;YUAN Li;ZHU Feng(Department of Cardiology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuha n・430022;Department of Ultrasonography,Wuhan Children’s Hospital,Tongji Medical College,Huazhong University of Science and Technology)

机构地区：[1]华中科技大学同济医学院附属协和医院心内科,武汉430022 [2]华中科技大学同济医学院附属儿童医院超声科

出　　处：《临床心血管病杂志》2021年第9期875-878,共4页Journal of Clinical Cardiology

基　　金：国家自然科学基金面上项目(No:81570348);湖北省卫计委青年人才项目(No:WJ2019Q002);湖北省自然科学基金面上项目(No:2019CFC892);湖北省儿科联盟科学基金项目(No:HBPASF-2019-04);。

摘　　要：1病例资料先证者女(Ⅱ1),31岁。因"间断头晕1年,加重1周"就诊。患者近1年来无明显诱因出现头晕,有时伴有恶心,无呕吐不适,无胸闷、胸痛,无视物旋转、视物模糊,无黑朦、晕厥及倒地。门诊心电图示:窦性心动过缓。既往史:否认高血压病、冠心病、糖尿病病史,孕1产1。家族史:其父(Ⅰ1)50岁猝死;其母(Ⅰ2)无心血管病史;儿子(Ⅲ1)4岁,心动过缓。The proband, a 31-years-old female, was admitted for dizzy. Twenty-four-hour electrocardiogram(ECG) monitoring showed sinus bradycardia with an average heart rate of 40 beats per minute, which supported the diagnosis of sick sinus syndrome(SSS). Echocardiography demonstrated ventricular noncompaction locating at basal anterolateral, mid lateral, mid inferolateral, mid anterolateral, and apical segments of left ventricle within an ejection fraction of 67%. Her father died suddenly at age of 50 years. Her asymptomatic son(4-year-old) was also diagnosed SSS with left ventricular noncompaction(LVNC) in a pedigree investigation. To explore the genetic etiology of the overlapping cardiac disorder in the family, whole exome sequencing(WES) was performed on the proband. WES detected a heterozygous variant, c. 1438 G>C/p. Gly480 Arg is located in the HCN4 gene, which was reported to be associated with familial SSS before. Her 4-years-old son carried the same variant. The HCN4 gene encodes hyperpolarization-activated cyclic nucleotide-gated channel 4(HCN4), which conducts the hyperpolarization-activated If current in the sinoatrial node(SAN) pacemaker activity. The identified variant is located in the evolutionarily conserved region of the HCN4 gene. And the p. Gly480 residue affected by the variant is located in the pore domain of the HCN4 channel. Previous work has found that the variant in the pore domain could reduce the pacemaker current, and suppress diastolic depolarization and automaticity in SAN. Half of the patients with HCN4 variant-causing SSS displayed the cardiomyopathy phenotype of LVNC. However, the mechanism underlying the overlapping disorder is few understood. To our knowledge, this is the first case of the overlapping SSS and LVNC associated with variant c. 1438 G>C/p. Gly480 Arg in the HCN4 gene. Therefore, the HCN4 gene should be listed as genetic screening for familial SSS with or without LVNC.

关 键 词：病态窦房结综合征 左室心肌致密化不全 HCN4 

分 类 号：R541.7[医药卫生—心血管疾病]