ArticleTranslational pediatrics2026
A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Familial glucocorticoid deficiency type 4 (GCCD4), caused by nicotinamide nucleotide transhydrogenase ( Case Description: A 12-year-old female presented with recurrent fatigue, syncope, and severe arrhythmias. After multiple misdiagnoses [including dilated cardiomyopathy, fulminant myocarditis, and long QT syndrome (LQTS)], comprehensive evaluation revealed hypocortisolism (<1.0 µg/dL), markedly elevated adrenocorticotropic hormone (ACTH) (>1,250 pg/mL), and hypothyroidism. Genetic testing identified compound heterozygous Conclusions: This case underscores GCCD4 as a differential diagnosis in pediatric cardiomyopathy with arrhythmias. Multidisciplinary collaboration and early genetic testing are critical for diagnosis. Individualized glucocorticoid dosing combined with cardiac support enables favorable outcomes.
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