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

Mahsima Shabani; Elham Rayzan; Ido Somekh; Christoph Klein; Nima Rezaei

doi:10.18502/igj.v8i3.18211

Mahsima Shabani Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Elham Rayzan Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Ido Somekh Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany
Christoph Klein Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany
Nima Rezaei Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/igj.v8i3.18211

Keywords: G6PC3; CGD; Heart defects; ASD; Neutropenia

Abstract

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