PPA2 Deficiency in 2 Sisters

PPA2 Deficiency in 2 Sisters

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
Main Authors: Will Genthe, MS, Colleen Donnelly, MS, David Ezon, MD, Veronica Fettig, MS, Jaya Ganesh, MD, Isaac Marin-Valecia, MD, Bruce D. Gelb, MD
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:JACC: Case Reports
Subjects:
genetics
mitochondrial disease
multidisciplinary care
PPA2
sudden cardiac death
Online Access:http://www.sciencedirect.com/science/article/pii/S2666084923003583

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