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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Detalles Bibliográficos
Autores principales: Genthe, Will, Donnelly, Colleen, Ezon, David, Fettig, Veronica, Ganesh, Jaya, Marin-Valecia, Isaac, Gelb, Bruce D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589443/
https://www.ncbi.nlm.nih.gov/pubmed/37869221
http://dx.doi.org/10.1016/j.jaccas.2023.102024
Descripción
Sumario: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.)

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