ArticleAnnals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc2026
De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non-Compaction and Metabolic Disturbances: A Rare Case Report.
Article in Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non-Compaction and Metabolic Disturbances: A Rare Case Report.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2026Article
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Abstract
Left ventricular non-compaction (LVNC) is a rare cardiomyopathy characterized by prominent trabeculations and deep recesses. Neonatal cases, particularly with severe metabolic disturbances, are uncommon. We report a 2-day-old neonate with LVNC and dilated cardiomyopathy, presenting recurrent heart failure associated with hyperkalemia, metabolic acidosis, hyperlactatemia, and hypoglycemia. Management included mechanical ventilation, metabolic correction, and heart failure therapy, leading to improved cardiac function. Genetic analysis revealed a de novo heterozygous pathogenic ACTN2 deletion spanning exons 2-6. This case broadens the phenotypic spectrum of ACTN2-related LVNC and suggests a potential link between metabolic disturbances and cardiac deterioration.
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