Key result
Pediatric patients with a recurrent, aggressive discrete subaortic stenosis phenotype exhibited significantly higher LVOT peak gradients and differential regulation of genes and proteins involved in extracellular matrix assembly and actin cytoskeleton remodeling compared to non-recurrent patients.
Why the study?
Discrete subaortic stenosis has a high rate of reoccurrence requiring a second surgery, but there are currently no tools available to predict the risk of reoccurrence.
What genes and proteins are differentially regulated in recurrent versus non-recurrent discrete subaortic stenosis?
Observational (n=32)
No
What genes and proteins are differentially regulated in recurrent versus non-recurrent discrete subaortic stenosis?
Absolute Event Rate: 76.71% vs 51.2%
Genomic and proteomic profiling of resected fibrotic membranes may help identify biomarkers to predict the risk of recurrence in pediatric patients with discrete subaortic stenosis.
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Membrane analysis at first surgery may stratify DSS recurrence risk; leaves open whether biomarkers can guide follow-up or reintervention.
Birla et al. (2023) conducted an observational in Discrete subaortic stenosis (n=32). Aggressive (recurrent) discrete subaortic stenosis phenotype vs. Non-aggressive (non-recurrent) discrete subaortic stenosis phenotype was evaluated on Left ventricular outflow tract (LVOT) peak gradient. Pediatric patients with a recurrent, aggressive discrete subaortic stenosis phenotype exhibited significantly higher LVOT peak gradients and differential regulation of genes and proteins involved in extracellular matrix assembly and actin cytoskeleton remodeling compared to non-recurrent patients.
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