{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T12:54:29Z","timestamp":1790945669872,"version":"4.1.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>FHL2<\/jats:italic>\n                      is critical for cardiac development, and its variants are associated with early-onset severe dilated cardiomyopathy (DCM), though such reports remain rare.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      The patient was a 30-day-old male infant admitted with a 3-day history of cough, a 2-day history of poor feeding, and lethargy lasting half a day. Echocardiography revealed left ventricular enlargement, with a minimum left ventricular ejection fraction (LVEF) of only 13%, and endocardial thickening. Genetic testing identified a heterozygous missense variant c.391C&amp;gt;T (p.Arg131Cys) in\n                      <jats:italic>FHL2<\/jats:italic>\n                      . This variant was confirmed to be\n                      <jats:italic>de novo<\/jats:italic>\n                      . According to the American College of Medical Genetics and Genomics (ACMG) guidelines, it was classified as likely pathogenic, suggestive of DCM. After heart failure management and other symptomatic treatments, the patient\u2019s clinical symptoms improved. However, LVEF remained low at 15.5% during the 6-month follow-up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The heterozygous missense variant c.391C&amp;gt;T (p.Arg131Cys) in\n                      <jats:italic>FHL2<\/jats:italic>\n                      is associated with DCM in this patient, and the endocardial thickening may represent a secondary change. However, we acknowledge that without pathological examination of the explanted heart or endomyocardial biopsy, the possibility of primary endocardial fibroelastosis (EFE) cannot be completely excluded. This study emphasizes the clinical importance of distinguishing true primary EFE from secondary EFE-like endocardial changes associated with severe DCM, and genetic testing is valuable for their differential diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1841224","type":"journal-article","created":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T12:06:20Z","timestamp":1790942780000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Endocardial thickening in dilated cardiomyopathy associated with FHL2 variant: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Yana","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, The Affiliated Hospital of Shaoxing University","place":["Shaoxing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingfang","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Intensive Care Unit, Children\u2019s Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine","place":["Hangzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingke","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Affiliated Hospital of Shaoxing University","place":["Shaoxing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiajia","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Affiliated Hospital of Shaoxing University","place":["Shaoxing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Affiliated Hospital of Shaoxing University","place":["Shaoxing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1007\/s10741-023-10319-0","article-title":"Endocardial fibroelastosis in infants and young children: a state-of-the-art review","volume":"28","author":"Aldawsari","year":"2023","journal-title":"Heart Fail. 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