{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:21:43Z","timestamp":1747149703700,"version":"3.40.5"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,8,19]],"date-time":"2020-08-19T00:00:00Z","timestamp":1597795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NCATS 1 U54 NS115198\u201001"],"award-info":[{"award-number":["NCATS 1 U54 NS115198\u201001"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies. The most common CDG is caused by pathogenic variants in the phosphomannomutase 2 gene (<jats:italic>PMM2<\/jats:italic>), which impairs one of the first steps of N\u2010glycosylation and affects multiple organ systems. Cardiac involvement can include pericardial effusion, cardiomyopathy, and arrhythmia, while an association with cardiovascular congenital anomalies is not well studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case summary<\/jats:title><jats:p>We report a 6\u2010year\u2010old individual who initially presented with inverted nipples, developmental delay, and failure to thrive at 3 months of age. At 4 months, due to feeding problems, swallowing exam and echocardiography were performed which revealed a vascular ring anomaly based on a right aortic arch and aberrant left subclavian artery. Subsequent whole exome gene sequencing revealed two pathogenic PMM2\u2010CDG variants (E139K\/R141H) and no known pathogenic mutations related to congenital heart defect (CHD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This is the first report of vascular ring anomaly in a patient with PMM2\u2010CDG. We conducted a literature review of PMM2\u2010CDG patients with reported CHD. Of the 14 patients with PMM2\u2010CDG and cardiac malformation, the most common CHD's were tetralogy of Fallot, patent ductus arteriosus, and truncus arteriosus. The potential important link between CDG and CHD is stressed and discussed. Furthermore, the importance of multidisciplinary care for CDG patients including early referral to pediatric cardiologists is highlighted.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12160","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T09:37:58Z","timestamp":1598607478000},"page":"27-33","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature"],"prefix":"10.1002","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2070-924X","authenticated-orcid":false,"given":"Zhen","family":"Qian","sequence":"first","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Research Group Experimental Oto\u2010Rhino\u2010Laryngology KU Leuven  Leuven Belgium"},{"name":"Faculty of Medicine KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jef","family":"Van den Eynde","sequence":"additional","affiliation":[{"name":"Faculty of Medicine KU Leuven  Leuven Belgium"},{"name":"Labatt Family Heart Center, Department of Paediatrics Hospital for Sick Children and University of Toronto  Toronto Ontario Canada"},{"name":"Department of Cardiovascular Sciences KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephane","family":"Heymans","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Sciences KU Leuven  Leuven Belgium"},{"name":"Cardiovascular Research Institute Maastricht (CARIM) Maastricht University  Maastricht The Netherlands"},{"name":"Netherlands Heart Institute (ICIN)  Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc","family":"Mertens","sequence":"additional","affiliation":[{"name":"Labatt Family Heart Center, Department of Paediatrics 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