Original Article

Congenital Cardiac Defects in G6PC3 Deficiency: Report of a Mutation and a Literature Review

Abstract

Background: Congenital cardiac anomalies are considered the most frequent non-hematologic manifestation of Glucose-6-phosphatase 3 (G6PC3) deficiency.

Methods: We report a case of G6PC3-deficiency with a novel homozygous frameshift variant (c.911dupC; p.Gln305SerfsTer82), who developed intermittent neutropenia and was diagnosed long after a repair cardiac surgery for patent ductus arteriosus (PDA). To further investigate the importance of immunologic workups in patients with congenital cardiac defects, we provide a literature review on the observed cardiac findings in patients with SCN4.

Results: Overall, 78.3% of reported patients had cardiac defects, with more than half of the patients (56%) presenting with ASD. More than half of the patients with ASD required surgical repair, which implies the severity of symptoms.

Conclusion: These findings highlight the importance of performing immunologic work-ups in children initially manifesting congenital heart defects. A simple differential cell-blood-count test may prevent future life-threatening disseminated infections, especially in countries with high rates of consanguinity and, subsequently, higher prevalence of primary immunodeficiencies.

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IssueVol 8, No 3 (2025) QRcode
SectionOriginal Article
 
Keywords
G6PC3 CGD Heart Defects ASD Neutropenia
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How to Cite
1.
Shabani M, Rayzan E, Somekh I, Klein C, Rezaei N. Congenital Cardiac Defects in G6PC3 Deficiency: Report of a Mutation and a Literature Review. Immunol Genet J. 2025;8(3).