Population
1 infantile case with a perimembranous ventricular septal defect and restrictive cardiomyopathy
Design
Case_report
Follow-up
Up to 8 years of age
Authors
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Leaves open whether TNNI3 testing should guide pediatric cardiomyopathy management; supports further investigation of sarcomeric overlap with congenital defects.
Reports a rare case of a de novo TNNI3 mutation presenting with both ventricular septal defect and restrictive cardiomyopathy, suggesting an overlap of functional and morphologic phenotypes in sarcomeric genes.
Yang et al. (2010) studied this question.
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