{"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":1792442699282,"version":"4.5.0"},"reference-count":5,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T00:00:00Z","timestamp":1738195200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic pathogenic variants in the inorganic pyrophosphatase 2 (PPA2) gene are a rare but established cause of sudden infant death, which may be precipitated by a pyrexial or viral illness. It has also been associated with sudden death secondary to alcohol ingestion in young adults. We describe the case of a thirteen-month-old female who presented following out-of- hospital cardiac arrest and was subsequently diagnosed with compound, heterozygous pathogenic variants of PPA2. She survived this episode and made excellent neurological recovery despite her prolonged out-of-hospital resuscitation. This case describes her initial presentation, consideration of PPA2-related cardiac arrest in the differential diagnosis, and the subsequent secondary preventative strategies. These included insertion of an implantable cardiac defibrillator, avoidance of alcohol in her medication preparations and administration of childhood vaccinations in a hospital environment due to risk of pyrexia-induced arrhythmias.<\/jats:p>","DOI":"10.1017\/s1047951125000174","type":"journal-article","created":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T10:04:34Z","timestamp":1738231474000},"page":"433-435","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":2,"title":["PPA2-associated cardiac arrest survivor"],"prefix":"10.1017","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5095-7084","authenticated-orcid":false,"given":"Claire","family":"McGinn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rihab","family":"Agouba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siobhan","family":"O\u2019Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deirdre","family":"Donnelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Casey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2025,1,30]]},"reference":[{"key":"S1047951125000174_ref1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01296-6"},{"key":"S1047951125000174_ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.021"},{"key":"S1047951125000174_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2021.03.029"},{"key":"S1047951125000174_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.027"},{"key":"S1047951125000174_ref5","article-title":"Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis","volume":"6","author":"Sanford","year":"2020","journal-title":"Cold Spring Harb Mol Case"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951125000174","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T10:17:17Z","timestamp":1742552237000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951125000174\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,30]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["S1047951125000174"],"URL":"https:\/\/doi.org\/10.1017\/s1047951125000174","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,30]]},"assertion":[{"value":"\u00a9 The Author(s), 2025. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}