{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:18:19Z","timestamp":1787008699301,"version":"build-2736575974"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T00:00:00Z","timestamp":1685923200000},"content-version":"vor","delay-in-days":4,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Juvenile onset of extensive atrial electromechanical failure, including atrial standstill, is a rare disease entity that may precede ventricular cardiomyopathy. Genetic variants associated with early-onset atrioventricular (AV) cardiomyopathy are increasingly recognized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>A 16-year-old patient presented with atrial brady- and tachyarrhythmias and concomitant impaired atrial electromechanical function (atrial standstill). The atrial phenotype preceded the development of a predominantly right-sided AV dilated cardiomyopathy with pronounced myocardial fibrosis. A His-bundle pacemaker was installed for high-degree AV conduction block and sinus arrest. Using familial-based whole-exome sequencing, a missense mutation and a copy number variant deletion (compound heterozygosity) of the TAF1A gene (involved in ribosomal RNA synthesis) were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Juvenile onset of severe atrial electromechanical failure with atrial arrhythmias should prompt deep pheno- and genotyping and calls for vigilance for downstream cardiomyopathic deterioration.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad255","type":"journal-article","created":{"date-parts":[[2023,6,3]],"date-time":"2023-06-03T06:46:33Z","timestamp":1685774793000},"source":"Crossref","is-referenced-by-count":1,"title":["Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in\n                    <i>TAF1A<\/i>\n                    : sentinel event for evolving dilated cardiomyopathy\u2014a case report"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4278-0132","authenticated-orcid":false,"given":"Rachel M A","family":"ter Bekke","sequence":"first","affiliation":[{"name":"Maastricht University Medical Center (MUMC), Cardiovascular Research Institute Maastricht (CARIM) , P. Debyelaan 25, 6229 HX Maastricht, PO box 5800 , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"de Schouwer","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Cardiovascular Center Onze-Lieve-Vrouwziekenhuis Hospital , Aalst , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Conti","sequence":"additional","affiliation":[{"name":"Department of Cardiac Electrophysiology, ARNAS Civico Hospital , Palermo , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Godelieve R F","family":"Claes","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center , Maastricht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1830-8858","authenticated-orcid":false,"given":"Jo","family":"Vanoevelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center , Maastricht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Gommers","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine, Maastricht University Medical Center , Maastricht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apollonia T J M","family":"Helderman-van den Enden","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center , Maastricht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Peter","family":"Brunner-LaRocca","sequence":"additional","affiliation":[{"name":"Maastricht University Medical Center (MUMC), Cardiovascular Research Institute Maastricht (CARIM) , P. 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