家族性肥厚型心肌病合并束支心室旁道
Familial Hypertrophic Cardiomyopathy With Fasciculoventricular Accessory Pathway.
作者信息
Kalra Vikas, Akrawinthawong Krittapoom, Kalra Maitri, Jain Rahul
机构信息
Department of Cardiology, Indiana University School of Medicine, Muncie, Indiana, USA.
Prairie Cardiovascular, Carbondale, Illinois, USA.
出版信息
JACC Case Rep. 2022 Feb 16;4(4):198-204. doi: 10.1016/j.jaccas.2021.12.011.
Hypertrophic cardiomyopathy (HCM) is a common but an underdiagnosed condition. Fasciculoventricular bypass tract (FVBT) is rare. Concomitant presence of both conditions is well described in Danon disease. We report a case of familial HCM with FVBT linked to a heterozygous pathogenic variant, c.655G>C (p.Val219Leu), in the cardiac myosin binding protein C3 (MYBPC3) gene. ().
肥厚型心肌病（HCM）是一种常见但诊断不足的疾病。束支心室旁道（FVBT）较为罕见。两种情况同时存在在丹农病中有详细描述。我们报告一例家族性HCM合并FVBT的病例，该病例与心肌肌球蛋白结合蛋白C3（MYBPC3）基因中的杂合致病性变异c.655G>C（p.Val219Leu）相关。（）
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