医学
心脏病学
心肌病
内科学
致心律失常性右心室发育不良
心脏病
疾病
临床表型
磁共振成像
表型
放射科
心力衰竭
遗传学
生物
基因
作者
Lijuan Xie,Nan Zhang,Y. Lv
摘要
ABSTRACT Arrhythmogenic right ventricular cardiomyopathy (ARVC) is the classic phenotype of arrhythmogenic cardiomyopathy. ARVC in twins have been reported rarely. Herein, we report an unusual case of young monozygotic twins with early disease onset presenting different course of disease progression and clinical manifestations. Echocardiography with multiparameters was used for the diagnosis, screening, and follow‐up of the disease for the family. Cardiac magnetic resonance revealed the fibrosis distribution in the right ventricular with late gadolinium enhancement. DSG2 mutation was found in the family members, which confirmed the final diagnosis of ARVC.
科研通智能强力驱动
Strongly Powered by AbleSci AI