Abstract
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.
Highlights
Restrictive cardiomyopathy (RCM) is very rare in children and it is characterized by dilated atria, elevated end-ventricular diastolic pressure, and severe diastolic dysfunction resulting from increased stiffness of the myocardium[1,2]
An echocardiogram disclosed that the girl had a structurally normal heart with normal biventricular dimensions, normal biventricular wall thickness and normal systolic functions, but with massive biatrial enlargement (Fig 1), markedly left ventricular (LV) diastolic dysfunction, which is consistent with restrictive LV filling pattern: a decreased e-wave deceleration time (102 ms, normal > 150 ms), an abnormal E/A wave ratio of 2.29, and a decreased isovolumic relaxation time (30 ms, normal > 70 ms)
Since the first sarcomere gene mutation was identified in the TNNI3 gene in RCM in 2003[7], several heterozygous mutations in TNNI3, TNNT2, ACTC, and MYH7 have been reported to be associated with RCM[7,8,9,10,11,12,13], indicating that RCM may be caused by single heterozygous mutations in the genes encoding sarcomeric proteins
Summary
Restrictive cardiomyopathy (RCM) is very rare in children and it is characterized by dilated atria, elevated end-ventricular diastolic pressure, and severe diastolic dysfunction resulting from increased stiffness of the myocardium[1,2]. We performed genetic investigations of candidate genes that have been reported in RCM and identified a missense mutation in the TNNI3 gene in a 12-year-old girl with RCM. The patient and her family were recruited at Nanjing Children's Hospital into an ongoing research protocol approved by the institution's ethics committee. Genetic analysis was performed for 4 candidate genes (TNNI3, TNNT2, ACTC, MYH7) known to associate with RCM by bidirectional sequencing of all the coding exons. Sequence variants were tested in the family as well as 100 healthy control
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