Key result
A pathogenic COA6 variant in a neonate with hypertrophic cardiomyopathy caused complex IV deficiency, which was partially rescued by copper supplementation in patient fibroblasts.
Population
1 patient with neonatal hypertrophic cardiomyopathy and isolated complex IV deficiency, and patient-derived…
Design
Case_report
Authors
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Should not alter neonatal HCM management; leaves open copper supplementation for COA6-related complex IV deficiency.
Case Report (n=1)
Identifies a pathogenic COA6 variant causing neonatal hypertrophic cardiomyopathy and suggests copper supplementation as a potential therapeutic lead.
Baertling et al. (2014) conducted a case report in Neonatal hypertrophic cardiomyopathy and isolated complex IV deficiency (n=1). Pathogenic COA6 variant was evaluated on Complex IV subunit stability and function. A pathogenic COA6 variant in a neonate with hypertrophic cardiomyopathy caused complex IV deficiency, which was partially rescued by copper supplementation in patient fibroblasts.
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