ArticleJACC. Case reports2023
PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death.
Article in JACC. Case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Acute heart failure in adulthood as the first manifestation of a homozygous pyrophosphatase 2 variant, expanding the phenotypic spectrum: a case report.European heart journal. Case reports · 2025Article
- PPA2 deficiency-a rare cause of genetic cardiomyopathy: a case report.European heart journal. Case reports · 2025Article
- A case of resuscitated cardiac arrest in a school-aged child with pyrophosphatase 2 deficiency.HeartRhythm case reports · 2025Article
- Risk of sudden cardiac death due to inorganic pyrophosphate A2 deficiency in a Pakistani infant: Diagnostic and management challenges in low-resource settings.Annals of pediatric cardiologyArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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Registered trials
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