Table · dataset · 2026
Data Sheet 1_Endocardial thickening in dilated cardiomyopathy associated with FHL2 variant: a case report.pdf
Listed in figshare and Loughborough Research Repository and GRANTS Data and UP Research Data Repository — shown once because both records carry DOI 10.3389/fgene.2026.1841224.s001
Description
Background<p>FHL2 is critical for cardiac development, and its variants are associated with early-onset severe dilated cardiomyopathy (DCM), though such reports remain rare.</p>Case presentation<p>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>T (p.Arg131Cys) in FHL2. This variant was confirmed to be de novo. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, it was classified as likely pathogenic, suggestive of DCM.
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After heart failure management and other symptomatic treatments, the patient’s clinical symptoms improved. However, LVEF remained low at 15.5% during the 6-month follow-up.</p>Conclusion<p>The heterozygous missense variant c.391C>T (p.Arg131Cys) in FHL2 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.</p>
Links
Where it is published
- DOI doi.org/10.3389/fgene.2026.1841224.s001 ↗
DOI / persistent id · from figshare com
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from figshare com
Topics
- From keywords
- Astronomy & Astrophysics · Chemistry · Chemistry · Computer Science & AI · Computer Science & AI · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Economics & Finance · Economics & Finance · Engineering · Engineering · Engineering · Genetics · Genetics · Genetics · Genetics · Humanities · Humanities · Humanities · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Materials Science · Mathematics & Statistics · Medicine & Health · Medicine & Health · Ocean & Atmospheric Science · Psychology & Behavioral Science · Social Science · Social Science · Social Science
- Inferred from text
- Cardiomyopathy 75% · Heart 75%
Provenance · 4 source records, 41 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| figshare | oai:figshare.com:article/34056471 | 9 d ago | JSON v1 |
| Loughborough Research Repository | oai:figshare.com:article/34056471 | 9 d ago | JSON v1 |
| GRANTS Data | oai:figshare.com:article/34056471 | 9 d ago | JSON v1 |
| UP Research Data Repository | oai:figshare.com:article/34056471 | 9 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · figshare com | connector:figshare_com@1.0.0 | |
| concepts[anatomy].local:anatomy:heart | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[disease].local:disease:cardiomyopathy | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].anzsrc:group:3105 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].anzsrc:group:3105 | mapping · grantsdata jst go jp | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:engineering | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:humanities | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:materials-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:psychology-behavioral | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:social-science | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:social-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| description | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/description |
| license | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/rights |
| publication_date | source · figshare com | connector:figshare_com@1.0.0 | |
| title | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/title |