Genetic Determinants of Early Heart Failure in Hypoplastic Left Heart Syndrome: A Prospective NC-DEFINE Study
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The authors aimed to determine whether ultra-rare variants in cardiomyopathy-associated genes are linked to the risk of early heart failure (HF) in infants with hypoplastic left heart syndrome (HLHS). Their findings indicate that the presence of likely pathogenic/pathogenic variants significantly increases the risk of severe HF in neonates with HLHS, suggesting that genetic screening could be beneficial for early risk stratification and tailored treatment in this vulnerable population.
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