| Field | Finding | Evidence scope | Suggested ontology terms | Key citation |
|---|---|---|---|---|
| Exact disease name / synonyms | **Cardiomyopathy, dilated, 100**; shorthand **DCM100**. Distinct from generic dilated cardiomyopathy and distinct from recessive **RPL3L**-associated neonatal DCM. | DCM100-specific for exact name; comparison to RPL3L based on separate literature mapping. | MONDO:0859381 | (pqac-00000000) |
| MONDO ID | **MONDO:0859381** for “cardiomyopathy, dilated, 100”. | DCM100-specific | MONDO:0859381 | (pqac-00000000) |
| Causal gene | **VEZF1** (vascular endothelial zinc finger 1). OpenTargets maps VEZF1 as the associated target for this disease with literature support from PMID **36657711**. | DCM100-specific | Gene symbol: VEZF1 | (pqac-00000000) |
| Protein role | VEZF1 is a **zinc-finger transcription factor** implicated in regulation of cardiac structure/function and angiogenic programs; in cardiomyocytes it regulates expression of contraction/cardiomyopathy-related genes including **MYH7** and interacts with **TEAD1**. | Gene/mechanism evidence relevant to DCM100; mostly experimental, not all from human DCM100 patients. | GO:0006355 regulation of DNA-templated transcription; GO:0060048 cardiac muscle contraction; GO:0001525 angiogenesis | (pqac-00000001, pqac-00000005, pqac-00000006, pqac-00000009) |
| Inheritance | **Autosomal dominant** pattern is most likely for DCM100 because the defining publication is titled **“VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy”** and describes a familial DCM gene-disease relationship; exact pedigree details were not recoverable here. | DCM100-specific but partially inferred from defining publication metadata | HP:0000006 Autosomal dominant inheritance | (pqac-00000000) |
| Defining human evidence | Defining report: **Shi HY, Xie MS, Guo YH, et al. “VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.” European Journal of Medical Genetics. 2023; DOI: 10.1016/j.ejmg.2023.104705; PMID: 36657711.** Exact variant HGVS, family size, and frequencies were not available in recovered context and should not be invented. | DCM100-specific | NCIT: C16612 Genetic Finding | (pqac-00000000) |
| Core phenotype | Dilated cardiomyopathy phenotype is expected: **left ventricular dilatation and systolic dysfunction**, progressing to heart failure/arrhythmic risk as in familial DCM. Direct DCM100-specific phenotypic granularity beyond this was not recoverable in current context. | Mixed: DCM100-specific at disease label; generic DCM for detailed phenotype framing | HP:0001644 Dilated cardiomyopathy; HP:0001670 Abnormal cardiac ventricle morphology; HP:0001638 Cardiomyopathy; HP:0005162 Reduced ejection fraction | (pqac-00000000, pqac-00000011) |
| Mechanistic chain | Proposed chain: **VEZF1 loss-of-function → altered transcriptional control in cardiomyocytes → reduced MYH7/β-MHC and dysregulation of other contraction-related genes → impaired compensatory growth and reduced contractile reserve → ventricular dysfunction / DCM phenotype**. Vezf1 also binds **TEAD1** and affects an **MCAT** site in the Myh7 promoter. | Mechanism is experimental and supportive, not direct proof from all DCM100 patients | GO:0006357 regulation of transcription by RNA polymerase II; GO:0060048 cardiac muscle contraction; GO:0003015 heart process | (pqac-00000005, pqac-00000006, pqac-00000007, pqac-00000009) |
| Primary anatomy / cell type / subcellular localization | Primary organ/tissue: **heart / myocardium**, especially **left ventricle**. Key cell types: **cardiomyocytes** and likely **endothelial cells**. VEZF1 is described as a **nuclear protein**. | Mostly mechanism/model evidence; anatomy aligns with DCM100 disease concept | UBERON:0000948 heart; UBERON:0002084 myocardium; UBERON:0002082 cardiac ventricle; UBERON:0002080 left ventricle; CL:0002494 cardiomyocyte; CL:0000115 endothelial cell; GO:0005634 nucleus | (pqac-00000001, pqac-00000004, pqac-00000008) |
| Diagnostic approach | No DCM100-specific diagnostic guideline was recovered. Practical approach is **generic hereditary DCM workup** plus molecular confirmation: clinical exam/family history, **ECG**, **echocardiography**, **CMR**, natriuretic peptides/heart-failure biomarkers, and **multigene cardiomyopathy testing including VEZF1** if available. Generic DCM criteria cited include **LVEF <45% or FS <25%** with increased LV size. | Mostly extrapolated from generic DCM | NCIT: C38043 Electrocardiography; NCIT: C16576 Echocardiography; NCIT: C16809 Magnetic Resonance Imaging; NCIT: C47809 Genetic Testing | (pqac-00000011) |
| Treatment status | **No DCM100-specific targeted therapy** was identified. Management should follow **guideline-directed therapy for dilated cardiomyopathy/heart failure**, with consideration of arrhythmia prevention, ICD/CRT when indicated, advanced HF therapies, and transplantation in end-stage disease. | Extrapolated from generic DCM; not DCM100-specific | NCIT: C101526 Heart Failure Management; NCIT: C173520 Implantable Cardioverter Defibrillator Placement; NCIT: C80450 Cardiac Resynchronization Therapy; NCIT: C15202 Heart Transplantation | (pqac-00000011) |
| Epidemiology | **Ultra-rare / not established** for DCM100 specifically. No prevalence, incidence, sex ratio, or carrier frequency for DCM100 were recoverable. Familial DCM more broadly accounts for roughly **30–50%** of DCM, with identifiable genetic causes in about **40% of familial cases** in the cited review. | DCM100-specific data unavailable; generic DCM/familial DCM figures extrapolated | NCIT: C25190 Prevalence | (pqac-00000011) |
| Model systems | **Zebrafish Vezf1 knockdown** reduces cardiac growth and blunts β-adrenergic stress-induced contractile response; **rat cardiomyocytes** with Vezf1 silencing show reduced shortening, reduced **β-MHC/MYH7**, increased skeletal α-actin, and TEAD1 interaction; expression is decreased in diseased human myocardium and post-MI mouse hearts. | Mechanistic/model evidence supportive of DCM100 biology | CL:0002494 cardiomyocyte; GO:0060048 cardiac muscle contraction; GO:0001525 angiogenesis | (pqac-00000001, pqac-00000004, pqac-00000005, pqac-00000006, pqac-00000007, pqac-00000008, pqac-00000009) |


*Table: This table summarizes the highest-confidence facts currently recoverable for Cardiomyopathy, Dilated, 100, clearly separating disease-specific findings from broader DCM extrapolations. It is designed for direct knowledge-base ingestion with ontology suggestions and context-ID citations.*