{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T18:45:34Z","timestamp":1785782734747,"version":"3.56.0"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T00:00:00Z","timestamp":1783987200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Left ventricular non-compaction (LVNC) is a genetically heterogeneous cardiomyopathy linked to sarcomeric and cytoskeletal genes, yet only one case has previously been associated with a troponin I (TNNI3) variant. Our case report describes the exceptionally rare coexistence of LVNC, a novel TNNI3 variant, and a hypermobile Ehlers\u2013Danlos syndrome (hEDS) phenotype, genetically unrelated to TNNI3, resulting in a distinct clinical presentation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>A 17-year-old female with joint hypermobility, chronic musculoskeletal pain, and a strong maternal history of Ehlers\u2013Danlos syndrome (EDS) presented after a right shoulder subluxation. Screening echocardiogram unexpectedly revealed LVNC with mildly reduced systolic ventricular function. Cardiopulmonary exercise testing showed reduced peak VO2 and markedly elevated VE\/VCO2 slope. Genetic testing identified a rare heterozygous TNNI3 variant of uncertain significance (c.318 G &amp;gt; C; p.K106N) within a conserved regulatory domain of cardiac troponin I, with no additional pathogenic variants in LVNC- or connective tissue\u2013associated genes; cascade testing revealed the same variant in her mother.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>TNNI3-associated LVNC is extraordinarily rare. TNNI3 encodes cardiac troponin I, typically linked to hypertrophic and restrictive cardiomyopathy, occasionally dilated cardiomyopathy, and only rarely LVNC. LVNC has been reported in EDS almost exclusively in vascular EDS related to COL3A1, not in hEDS, adding further clinical distinctiveness. This case represents the first reported coexistence of LVNC with a TNNI3 variant in an adolescent with hEDS features and underscores the need for multimodal evaluation and family screening in patients with overlapping connective-tissue and autonomic phenotypes, rather than attributing LV hypertrabeculation to incidental or benign findings.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytag494","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T11:25:57Z","timestamp":1783941957000},"source":"Crossref","is-referenced-by-count":0,"title":["Left ventricular non-compaction in a hypermobile adolescent harboring a novel troponin I (\n                    <i>TNNI3)<\/i>\n                    variant (p.K106N): a case report"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8072-8581","authenticated-orcid":false,"given":"Kwadwo A","family":"Danso","sequence":"first","affiliation":[{"name":"Division of Pediatrics, University of Illinois College of Medicine at Peoria , 530 NE Glen Oak Avenue, Peoria, IL 61637 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernerio T","family":"Alboliras","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cardiology, Division of Pediatrics, University of Illinois College of Medicine at Peoria , 420 NE Glen Oak Avenue, Peoria, IL 61603 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dylan A","family":"Yeleti","sequence":"additional","affiliation":[{"name":"Dunlap High School , 5220 Legion Hall Rd, Dunlap, IL 61525 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra W","family":"Secondus","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, University of Illinois College of Medicine at Peoria , 530 NE Glen Oak Avenue, Peoria, IL 61637 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9726-582X","authenticated-orcid":false,"given":"Soujanya","family":"Bogarapu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cardiology, Division of Pediatrics, University of Illinois College of Medicine at Peoria , 420 NE Glen Oak Avenue, Peoria, IL 61603 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,7,14]]},"reference":[{"key":"2026080314024233700_ytag494-B1","doi-asserted-by":"crossref","first-page":"484","DOI":"10.3390\/jpm15100484","article-title":"Left ventricular non-compaction cardiomyopathy: a review of the pathophysiology, epidemiology, diagnosis, genetics, and clinical management","volume":"15","author":"Tittonel","year":"2025","journal-title":"J Pers Med"},{"key":"2026080314024233700_ytag494-B2","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","article-title":"Contemporary definitions and classification of the cardiomyopathies: an American Heart Association scientific statement from the Council on Clinical Cardiology, Heart Failure, and Transplantation Committee: Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention","volume":"113","author":"Maron","year":"2006","journal-title":"Circulation"},{"key":"2026080314024233700_ytag494-B3","first-page":"33","article-title":"The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction","volume":"18","author":"Fujino","year":"2018","journal-title":"J Cardiol Cases"},{"key":"2026080314024233700_ytag494-B4","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1134\/S0006297913130063","article-title":"Human cardiac troponin complex. 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