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Published on: June 12, 2021
PPA2-associated cardiac arrest survivor
Claire McGinn1,2, Rihab Agouba1, Siobhan O'Sullivan1
1Royal Belfast Hospital for Sick Children, Belfast, UK.
Insights
Sudden cardiac arrest in infants can be caused by inorganic pyrophosphatase 2 (PPA2) gene variants. Early diagnosis and preventative strategies, like ICD insertion, improve survival and neurological recovery in affected children.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Biallelic pathogenic variants in the inorganic pyrophosphatase 2 (PPA2) gene are a rare cause of sudden infant death.
- PPA2 gene variants are also linked to sudden death in young adults, particularly after alcohol ingestion.
- These variants can lead to life-threatening cardiac arrhythmias, especially during febrile illnesses.
Purpose of the Study:
- To describe a case of PPA2-related cardiac arrest in a young child.
- To highlight the importance of considering PPA2 variants in the differential diagnosis of unexplained cardiac arrest.
- To outline secondary preventative strategies for patients with PPA2 pathogenic variants.
Main Methods:
- Case report of a thirteen-month-old female with out-of-hospital cardiac arrest.
- Genetic testing to identify compound, heterozygous pathogenic variants in the PPA2 gene.
- Review of clinical presentation, diagnostic considerations, and management strategies.
Main Results:
- The patient survived a prolonged out-of-hospital resuscitation with excellent neurological recovery.
- Diagnosis of compound, heterozygous pathogenic variants of PPA2 was confirmed.
- Secondary preventative strategies included ICD insertion and careful management of potential triggers like alcohol and pyrexia.
Conclusions:
- PPA2 gene variants represent a critical diagnosis in cases of sudden cardiac arrest, even in young children.
- Prompt genetic diagnosis and tailored preventative measures are crucial for improving outcomes.
- Management should focus on avoiding triggers such as alcohol and fever, and considering devices like implantable cardioverter-defibrillators (ICDs).
Abstract:
Biallelic pathogenic variants in the inorganic pyrophosphatase 2 (PPA2) gene are a rare but established cause of sudden infant death, which may be precipitated by a pyrexial or viral illness. It has also been associated with sudden death secondary to alcohol ingestion in young adults. We describe the case of a thirteen-month-old female who presented following out-of- hospital cardiac arrest and was subsequently diagnosed with compound, heterozygous pathogenic variants of PPA2. She survived this episode and made excellent neurological recovery despite her prolonged out-of-hospital resuscitation. This case describes her initial presentation, consideration of PPA2-related cardiac arrest in the differential diagnosis, and the subsequent secondary preventative strategies. These included insertion of an implantable cardiac defibrillator, avoidance of alcohol in her medication preparations and administration of childhood vaccinations in a hospital environment due to risk of pyrexia-induced arrhythmias.
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