Key result
A heterozygous missense mutation in the cardiac troponin I (TNNI3) gene was identified as a cause of pediatric restrictive cardiomyopathy, indicating the pathogenic role of sarcomere mutations.
Population
12-year-old Chinese girl with restrictive cardiomyopathy (n=1)
Design
Case_report
Authors
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Does not support changes to clinical genetic testing; leaves open confirmation of TNNI3 pathogenicity in larger pediatric cohorts.
Identifies a missense mutation in the TNNI3 gene as a potential cause of idiopathic pediatric restrictive cardiomyopathy.
Chen et al. (2014) studied this question. A heterozygous missense mutation in the cardiac troponin I (TNNI3) gene was identified as a cause of pediatric restrictive cardiomyopathy, indicating the pathogenic role of sarcomere mutations.
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