{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:51:02Z","timestamp":1791175862810,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T00:00:00Z","timestamp":1791072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T00:00:00Z","timestamp":1791072000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Sphingomyelin phosphodiesterase 4 (SMPD4)\u2010related disorder is a rare neurodevelopmental disorder caused by biallelic loss\u2010of\u2010function variants in\n                    <jats:italic>SMPD4,<\/jats:italic>\n                    characterized primarily by severe neurological manifestations. A subset of long\u2010term survivors develops diabetes mellitus (DM); however, the progression of systemic complications, including cardiomyopathy, remains poorly understood. In this report, we describe serial clinical observations over 5\u2009years in a previously described child with SMPD4\u2010related disorder. At 6\u2009years of age, following an infectious episode, the boy was diagnosed with autoantibody\u2010negative DM and dilated cardiomyopathy (DCM). DM was characterized by progressively increasing insulin requirements due to impaired insulin secretion, leading to the diagnosis of monogenic diabetes associated with SMPD4 deficiency. Serial echocardiographic findings revealed consistent DCM progression, characterized by left ventricular dilatation, myocardial wall thinning, and reduced fractional shortening, accompanied by recurrent infection\u2010triggered exacerbations that ultimately resulted in advanced DCM. This case suggests that SMPD4\u2010related disorder can manifest as progressive DM\/DCM post\u2010infancy. This report is the first longitudinal DCM description, underscoring multisystem involvement and the need for lifelong metabolic and cardiac monitoring, particularly during periods of infection\u2010triggered exacerbations.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70323","type":"journal-article","created":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T03:55:07Z","timestamp":1791172507000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Fatal Dilated Cardiomyopathy and Monogenic Diabetes Mellitus as\n                    <scp>SMPD4<\/scp>\n                    \u2010Related Disorder"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-8507-2558","authenticated-orcid":false,"given":"Takato","family":"Akiba","sequence":"first","affiliation":[{"name":"Department of Pediatrics Juntendo University Urayasu Hospital  Chiba Japan"},{"name":"Department of Pediatrics and Adolescent Medicine Juntendo University Graduate School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shino","family":"Shimada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Juntendo University Urayasu Hospital  Chiba Japan"},{"name":"Department of Pediatrics and Adolescent Medicine Juntendo University Graduate School of Medicine  Tokyo Japan"},{"name":"Medical Genomics Center, National Institute of Global Health and Medicine, Japan Institute for Health and Security (JIHS)  Tokyo Japan"},{"name":"Department of Clinical Genetics Graduate School of Medicine, Juntendo University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Juntendo University Urayasu Hospital  Chiba Japan"},{"name":"Department of Pediatrics and Adolescent Medicine Juntendo University Graduate School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akimi","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Juntendo University Urayasu Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8144-8195","authenticated-orcid":false,"given":"Naoko","family":"Hiramatsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Juntendo University Urayasu Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanato","family":"Iwahara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Juntendo University Urayasu Hospital  Chiba Japan"},{"name":"Department of Pediatrics and Adolescent Medicine Juntendo University Graduate School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mizuki","family":"Inage","sequence":"additional","affiliation":[{"name":"Department 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Hospital  Chiba Japan"},{"name":"Department of Pediatrics and Adolescent Medicine Juntendo University Graduate School of Medicine  Tokyo 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