Key result
In neonates with hypoplastic left heart syndrome, MYH6 variant carriers exhibited decreased right atrial active strain compared to matched controls (-1.41% vs. -3.53%; p=0.008).
Why the study?
MYH6 variants are associated with decreased transplant-free survival in hypoplastic left heart syndrome and encode a contractile protein expressed in neonatal atria, prompting assessment of atrial function in variant carriers.
Are MYH6 variants associated with impaired atrial function in neonates with hypoplastic left heart syndrome?
Case-Control (n=56)
Blinded assessment
Are MYH6 variants associated with impaired atrial function in neonates with hypoplastic left heart syndrome?
Absolute Event Rate: -1.41% vs -3.53%
p-value: p=0.008
MYH6 variants in neonates with HLHS are associated with impaired right atrial contractility, potentially contributing to worse clinical outcomes.
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Impaired RA contractility may contribute to poorer outcomes in MYH6-variant HLHS; extends genotype-phenotype links but remains hypothesis-generating.
Anfinson et al. (2024) conducted a case-control in Hypoplastic left heart syndrome (HLHS) (n=56). MYH6 variants vs. Matched controls without MYH6 variants was evaluated on Right atrial (RA) active strain (ASct) (p=0.008). In neonates with hypoplastic left heart syndrome, MYH6 variant carriers exhibited decreased right atrial active strain compared to matched controls (-1.41% vs. -3.53%; p=0.008).
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