{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:44:59Z","timestamp":1792442699903,"version":"4.5.0"},"reference-count":30,"publisher":"Cold Spring Harbor Laboratory","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>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 &gt; A; p.Glu172Lys) and a novel, maternally inherited missense variant of uncertain significance (c.442A &gt; 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.<\/jats:p>","DOI":"10.1101\/mcs.a005611","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T01:15:22Z","timestamp":1602119722000},"page":"a005611","source":"Crossref","is-referenced-by-count":19,"title":["Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis"],"prefix":"10.1101","volume":"6","author":[{"given":"Erica","family":"Sanford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4512-2015","authenticated-orcid":false,"given":"Marilyn 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