Children with complex congenital heart disease (CCHD) are at high risk for early neurodevelopmental delays across all domains. Neuromotor delay often emerges first and may impact broader development. Show more
Children with complex congenital heart disease (CCHD) are at high risk for early neurodevelopmental delays across all domains. Neuromotor delay often emerges first and may impact broader development. Identifying early biomarkers of motor function could capture a critical window for intervention. We assessed the prognostic value of neuron-specific enolase (NSE) and S100B in predicting 4-month motor outcomes in newborns undergoing cardiac surgery with cardiopulmonary bypass (CPB). Between December 2021 and October 2024, we conducted a prospective, single-centre study including term neonates with (CCHD) who required cardiac surgery within the first two months of life. NSE and S100B levels were measured at five perioperative time points. Blinded Alberta Infant Motor Scale (AIMS) assessment at four months evaluated motor outcomes. Of 35 newborns, 27 completed follow-up. Preoperative NSE levels were significantly higher in infants with AIMS scores below the 10th percentile (32.7 vs. 20.9 ng/mL, p = 0.044) and negatively correlated with AIMS percentiles (ρ = -0.617, p = 0.006. There was no significant association between motor outcomes, MRI findings or S100B levels. Higher preoperative NSE levels predict poor early motor outcomes in CCHD and may be a marker for early risk stratification and intervention. Neuron-specific enolase (NSE) may serve as an early biomarker of neuromotor development in newborns with complex congenital heart disease (CCHD). Elevated preoperative NSE levels were associated with poorer motor outcomes at four months. NSE may serve as an additional biomarker within a multimodal risk stratification strategy, complementing clinical, imaging, and electrophysiological assessments to refine prognostic evaluation. These findings highlight the prognostic value of perioperative biomarkers for predicting early motor outcomes and support earlier identification of at-risk newborns, enabling targeted neurodevelopmental interventions. This work adds new evidence to limited literature on biological predictors of motor development after neonatal cardiac surgery. Show less
Genetic cardiomyopathy is a rare disease in childhood. To analyse clinical and genetic aspects of a paediatric cardiomyopathy population, and to establish genotype-phenotype correlations. We performed Show more
Genetic cardiomyopathy is a rare disease in childhood. To analyse clinical and genetic aspects of a paediatric cardiomyopathy population, and to establish genotype-phenotype correlations. We performed a retrospective study of all patients with idiopathic cardiomyopathy aged<18years in Southeast France. Secondary causes of cardiomyopathy were excluded. All data (clinical, echocardiography, genetic testing) were collected retrospectively. Patients were classified into six groups: hypertrophic cardiomyopathy; dilated cardiomyopathy; restrictive cardiomyopathy; left ventricular non-compaction; arrhythmogenic right ventricular dysplasia; and mixed cardiomyopathy. Patients who did not have a complete genetic test according to current scientific developments had another deoxyribonucleic acid blood sample during the study time. Genetic tests were considered positive if the variant found was classified as pathogenic, likely pathogenic or a variant of uncertain significance. Eighty-three patients were included between 2005 and 2019. Most patients had hypertrophic cardiomyopathy (39.8%) or dilated cardiomyopathy (27.7%). The median age at diagnosis was 1.28years (interquartile range: 0.27-10.48years). Heart transplantation was performed in 30.1% of patients, and 10.8% died during follow-up. Among 64 patients with a complete genetic analysis, 64.1% had genetic anomalies, mostly in MYH7 (34.2%) and MYBPC3 (12.2%) genes. There were no differences in the whole cohort between genotype-positive and genotype-negative patients. In the hypertrophic cardiomyopathy group, 63.6% had a positive genetic test. Patients with a positive genetic test more often had extracardiac impact (38.1% vs. 8.3%; P=0.009), and more often required an implantable cardiac defibrillator (23.8% vs. 0%; P=0.025) or a heart transplant (19.1% vs. 0%; P=0.047). In our population, children with cardiomyopathy had a high positive genetic test rate. Hypertrophic cardiomyopathy with a positive genetic test is associated with a worse outcome. Show less