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 language | English |
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Article number | 102024 |
Journal | JACC: Case Reports |
Volume | 24 |
DOIs | |
State | Published - 18 Oct 2023 |
Keywords
- PPA2
- genetics
- mitochondrial disease
- multidisciplinary care
- sudden cardiac death