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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-10-01
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| Series: | JACC: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666084923003583 |
| _version_ | 1797679413129641984 |
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| author | Will Genthe, MS Colleen Donnelly, MS David Ezon, MD Veronica Fettig, MS Jaya Ganesh, MD Isaac Marin-Valecia, MD Bruce D. Gelb, MD |
| author_facet | Will Genthe, MS Colleen Donnelly, MS David Ezon, MD Veronica Fettig, MS Jaya Ganesh, MD Isaac Marin-Valecia, MD Bruce D. Gelb, MD |
| author_sort | Will Genthe, MS |
| collection | DOAJ |
| 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.) |
| first_indexed | 2024-03-11T23:14:14Z |
| format | Article |
| id | doaj.art-2a720b4da295459382d3a03186eb3c78 |
| institution | Directory Open Access Journal |
| issn | 2666-0849 |
| language | English |
| last_indexed | 2024-03-11T23:14:14Z |
| publishDate | 2023-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JACC: Case Reports |
| spelling | doaj.art-2a720b4da295459382d3a03186eb3c782023-09-21T04:38:07ZengElsevierJACC: Case Reports2666-08492023-10-0124102024PPA2 Deficiency in 2 SistersWill Genthe, MS0Colleen Donnelly, MS1David Ezon, MD2Veronica Fettig, MS3Jaya Ganesh, MD4Isaac Marin-Valecia, MD5Bruce D. Gelb, MD6Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USADepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USADepartment of Pediatric Cardiology, Icahn School of Medicine at Mount Sinai, Children’s Heart Center, Mount Sinai Hospital, New York, New York, USADepartment 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.Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USADepartment of Pediatric Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USADepartment 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, USAInorganic 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.)http://www.sciencedirect.com/science/article/pii/S2666084923003583geneticsmitochondrial diseasemultidisciplinary carePPA2sudden cardiac death |
| spellingShingle | Will Genthe, MS Colleen Donnelly, MS David Ezon, MD Veronica Fettig, MS Jaya Ganesh, MD Isaac Marin-Valecia, MD Bruce D. Gelb, MD PPA2 Deficiency in 2 Sisters JACC: Case Reports genetics mitochondrial disease multidisciplinary care PPA2 sudden cardiac death |
| title | PPA2 Deficiency in 2 Sisters |
| title_full | PPA2 Deficiency in 2 Sisters |
| title_fullStr | PPA2 Deficiency in 2 Sisters |
| title_full_unstemmed | PPA2 Deficiency in 2 Sisters |
| title_short | PPA2 Deficiency in 2 Sisters |
| title_sort | ppa2 deficiency in 2 sisters |
| topic | genetics mitochondrial disease multidisciplinary care PPA2 sudden cardiac death |
| url | http://www.sciencedirect.com/science/article/pii/S2666084923003583 |
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