Abstract

Inorganic pyrophosphatase 2 (PPA2) deficiency is a genetic cause of sudden cardiac death, often triggered by viral infection or alcohol consumption. Literature on management is limited because most cases are diagnosed post mortem. We report lethal and nonlethal cardiac presentations of PPA2 deficiency in 2 adolescent sisters that resulted from a novel pathogenic PPA2 variant. (Level of Difficulty: Advanced.)

Original languageEnglish
Article number102024
JournalJACC: Case Reports
Volume24
DOIs
StatePublished - 18 Oct 2023

Keywords

  • PPA2
  • genetics
  • mitochondrial disease
  • multidisciplinary care
  • sudden cardiac death

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