PPA2 Deficiency in 2 Sisters

Will Genthe, MS; Colleen Donnelly, MS; David Ezon, MD; Veronica Fettig, MS; Jaya Ganesh, MD; Isaac Marin-Valecia, MD; Bruce D. Gelb, MD

JACC: Case Reports (Oct 2023)

PPA2 Deficiency in 2 Sisters

Will Genthe, MS,
Colleen Donnelly, MS,
David Ezon, MD,
Veronica Fettig, MS,
Jaya Ganesh, MD,
Isaac Marin-Valecia, MD,
Bruce D. Gelb, MD

Affiliations

Will Genthe, MS: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Colleen Donnelly, MS: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA
David Ezon, MD: Department of Pediatric Cardiology, Icahn School of Medicine at Mount Sinai, Children’s Heart Center, Mount Sinai Hospital, New York, New York, USA
Veronica Fettig, MS: Department of Pediatric Cardiology, Icahn School of Medicine at Mount Sinai, Children’s Heart Center, Mount Sinai Hospital, New York, New York, USA; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Address for correspondence: Ms Veronica M. Fettig, Mount Sinai Hospital, One Gustave L. Levy Place, Box 1030, New York, New York 10029, USA.
Jaya Ganesh, MD: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Isaac Marin-Valecia, MD: Department of Pediatric Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Bruce D. Gelb, MD: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Pediatric Cardiology, Icahn School of Medicine at Mount Sinai, Children’s Heart Center, Mount Sinai Hospital, New York, New York, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA

Journal volume & issue: Vol. 24
p. 102024

Abstract

Read online

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.)

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

About the journal

Abstract

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