Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a Child.
Georgia SpentzouRuth McGowanDominic HaresKaren McLeodPublished in: Pediatric cardiology (2019)
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.
Keyphrases
- left ventricular
- catheter ablation
- cardiac arrest
- heart failure
- atrial fibrillation
- left atrial
- case report
- cardiopulmonary resuscitation
- early onset
- mental health
- acute myocardial infarction
- hypertrophic cardiomyopathy
- left atrial appendage
- aortic stenosis
- mitral valve
- coronary artery disease
- gene expression
- dna methylation
- transcription factor
- oral anticoagulants
- big data
- artificial intelligence
- quantum dots
- percutaneous coronary intervention
- ejection fraction