ArticleCold Spring Harbor molecular case studies2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.
Article in Cold Spring Harbor molecular case studies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 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
- A case of resuscitated cardiac arrest in a school-aged child with pyrophosphatase 2 deficiency.HeartRhythm case reports · 2025Article
- PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death.JACC. Case reports · 2023Article
- Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.NPJ genomic medicine · 2023Article
- Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA network open · 2023Article
- The Role of Genome Sequencing in Neonatal Intensive Care Units.Annual review of genomics and human genetics · 2022Review
- PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.Molecular genetics and metabolism · 2021Review
- 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
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Biallelic variants in inorganic pyrophosphatase 2 (PPA2) are known to cause infantile sudden cardiac failure (OMIM #617222), but relatively little is known about phenotypic variability of these patients prior to their death. We report a 5-wk-old male with bilateral vocal cord paralysis and hypertension who had a sudden unexpected cardiac death. Subsequently, molecular autopsy via whole-genome sequencing from newborn dried blood spot identified compound heterozygous mutations in PPA2, with a paternally inherited, pathogenic missense variant (c.514G > A; p.Glu172Lys) and a novel, maternally inherited missense variant of uncertain significance (c.442A > T; p.Thr148Ser). This report expands the presenting phenotype of patients with PPA2 variants. It also highlights the utility of dried blood spots for postmortem molecular diagnosis.
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Registered trials
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