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Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a Child
Georgia Spentzou1, Ruth McGowan2, Dominic Hares3
1Department of Pediatric Cardiology, Royal Hospital for Children, 1345 Govan Rd, Glasgow, G51 4TF, UK. georgiaspentzou@nhs.net.
Insights
A novel PRKAG2 gene mutation caused ventricular fibrillation cardiac arrest in a child with Wolff-Parkinson-White syndrome. This genetic mutation, passed from father to son, presents a more severe phenotype in the second generation.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- PRKAG2 gene variants are associated with familial cardiac syndromes.
- These syndromes typically involve ventricular hypertrophy, pre-excitation, and conduction abnormalities.
Observation:
- A 13-year-old boy experienced ventricular fibrillation cardiac arrest.
- He was diagnosed with Wolff-Parkinson-White syndrome, left ventricular hypertrophy, and atrial fibrillation.
- His father had a history of Wolff-Parkinson-White syndrome and left ventricular hypertrophy.
Findings:
- A novel heterozygous likely pathogenic PRKAG2 variant (c.911C>G, p.Ala304Gly) was identified in the father and son.
- This variant is absent from population databases.
- This represents the first reported instance of this PRKAG2 variant causing a more severe cardiac phenotype in a subsequent generation.
Implications:
- This case highlights the potential for increased severity of PRKAG2-associated cardiac conditions in successive generations.
- Early genetic screening and monitoring may be crucial for families with PRKAG2 variants.
- Further research into genotype-phenotype correlations in PRKAG2-related disorders is warranted.
Abstract:
We describe the case of a novel PRKAG2 mutation that manifested with a ventricular fibrillation cardiac arrest in a child. The previously healthy 13-year old boy, was subsequently diagnosed with Wolff-White-Parkinson syndrome, mild left ventricular hypertrophy and atrial fibrillation. His father had also been diagnosed in the past with Wolff-White-Parkinson syndrome and developed left ventricular hypertrophy. A novel heterozygous likely pathogenic variant, c.911C>G, p.Ala304Gly was identified in the father and his son, which is absent from population databases. PRKAG2 gene variants have previously been shown to cause a familial syndrome of ventricular hypertrophy, ventricular pre-excitation, supraventricular tachycardia, and conduction abnormalities. However, to the best of our knowledge, this is the first description of this rare syndrome manifesting with a more severe phenotype in a second generation relative within the same family.
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