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PPA2-associated cardiac arrest survivor.

Claire McGinn1,2, Rihab Agouba1, Siobhan O'Sullivan1

  • 1Royal Belfast Hospital for Sick Children, Belfast, UK.

Cardiology in the Young
|January 30, 2025
PubMed
Summary

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.

Keywords:
cardiac arrestfibrosisgenetic

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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).