Why the study?
Few sarcomeric genes have been reported where the same pathogenic variant affects both skeletal and cardiac muscle, and no known distal arthrogryposis genes were known to also cause cardiac abnormalities.
Population
Five families with distal arthrogryposis
Design
Case series
Authors
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Supports cardiac evaluation in distal arthrogryposis with ACTC1 variants; leaves open broader genotype-phenotype correlations.
Pathogenic variants in ACTC1 can cause a novel distal arthrogryposis syndrome with congenital heart defects, highlighting shared actin functions in cardiac and skeletal muscle.
Chong et al. (2023) studied this question.
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