Key result
Compound heterozygosity for TNNC1 mutations (p.A8V and p.D145E) was associated with fatal autosomal recessive restrictive cardiomyopathy in infancy, whereas single variants were not pathogenic.
Population
Pediatric proband and sibling with fatal restrictive cardiomyopathy associated with septal hypertrophy and…
Design
Case_report
Follow-up
9 months (for second sibling)
Authors
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TNNC1 is identified as a likely novel gene for autosomal recessive restrictive cardiomyopathy with fatal outcomes in infancy.
Case Report (n=2)
TNNC1 is identified as a likely novel gene for autosomal recessive restrictive cardiomyopathy with fatal outcomes in infancy.
Płoski et al. (2016) conducted a case report in Restrictive cardiomyopathy (n=2). Compound heterozygosity for TNNC1 mutations (p.A8V and p.D145E) vs. Single heterozygous variants was evaluated on Restrictive cardiomyopathy, heart failure, and death. Compound heterozygosity for TNNC1 mutations (p.A8V and p.D145E) was associated with fatal autosomal recessive restrictive cardiomyopathy in infancy, whereas single variants were not pathogenic.
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