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
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author Genthe, Will
Donnelly, Colleen
Ezon, David
Fettig, Veronica
Ganesh, Jaya
Marin-Valecia, Isaac
Gelb, Bruce D.
author_facet Genthe, Will
Donnelly, Colleen
Ezon, David
Fettig, Veronica
Ganesh, Jaya
Marin-Valecia, Isaac
Gelb, Bruce D.
author_sort Genthe, Will
collection PubMed
description 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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spelling pubmed-105894432023-10-22 PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death Genthe, Will Donnelly, Colleen Ezon, David Fettig, Veronica Ganesh, Jaya Marin-Valecia, Isaac Gelb, Bruce D. JACC Case Rep Case Report 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.) Elsevier 2023-09-20 /pmc/articles/PMC10589443/ /pubmed/37869221 http://dx.doi.org/10.1016/j.jaccas.2023.102024 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Genthe, Will
Donnelly, Colleen
Ezon, David
Fettig, Veronica
Ganesh, Jaya
Marin-Valecia, Isaac
Gelb, Bruce D.
PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death
title PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death
title_full PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death
title_fullStr PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death
title_full_unstemmed PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death
title_short PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death
title_sort ppa2 deficiency in 2 sisters: a rare cause of sudden cardiac death
topic Case Report
url 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
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