Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene.
Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candidate gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarcomere protein genes may play an important role in idiopathic pediatric restrictive cardiomyopathy.
Department of Emergency, the First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu 210029, China; ; Department of Cardiology, the First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu 210029, China;
Yan
Y
Chen
Department of Cardiology, the First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu 210029, China; ; Department of Cardiology, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu 210008, China.
Shiwei
S
Yang
Department of Cardiology, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu 210008, China.
Jun
J
Li
Department of Emergency, the First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu 210029, China;
Gannan
G
Wang
Department of Cardiology, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu 210008, China.
Yuming
Y
Qin
Department of Cardiology, the First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu 210029, China;
Daowu
D
Wang
Department of Cardiology, the First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu 210029, China;
Kejiang
K
Cao
cardiomyopathy; restrictive; sarcomere protein gene; troponin I