PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death

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 deficien...

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Bibliographic Details
Published in:JACC. Case reports 2023-10, Vol.24
Main Authors: Genthe, Will, Donnelly, Colleen, Ezon, David, Fettig, Veronica, Ganesh, Jaya, Marin-Valecia, Isaac, Gelb, Bruce D.
Format: Article
Language:English
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Case Report
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Summary: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. )
ISSN:2666-0849
DOI:10.1016/j.jaccas.2023.102024