| Topic | Key points (concise) | Key quantitative data | Key sources |
|---|---|---|---|
| Definition / pathology | TGCV is a rare cardiovascular disorder caused by defective intracellular triglyceride lipolysis, leading to triglyceride accumulation in cardiomyocytes and coronary vascular smooth muscle, with energy failure, lipotoxicity, diffuse concentric coronary narrowing, heart failure, arrhythmia, and CAD resistant to standard therapy. Idiopathic TGCV lacks identified PNPLA2 mutation but shows similar impaired lipolysis phenotype. (pqac-00000000, pqac-00000001, pqac-00000005, pqac-00000007) | First described in transplant patients in 2008; myocardial BMIPP washout can be markedly low, e.g., 3.5% in a case with myocardial TG 4.92% by 1H-MRS. (pqac-00000007) | Hirano et al., 2024, doi:10.7793/jcad.30.005, https://doi.org/10.7793/jcad.30.005; Kobayashi et al., 2020, doi:10.17996/anc.20-00131, https://doi.org/10.17996/anc.20-00131; Sai et al., 2021, doi:10.2169/internalmedicine.6126-20, https://doi.org/10.2169/internalmedicine.6126-20; PMID: |
| Classification | TGCV is classified as primary TGCV (P-TGCV; with ATGL/PNPLA2 deficiency or mutation) and idiopathic TGCV (I-TGCV; without PNPLA2 mutation). Jordan’s anomaly helps classify primary disease; idiopathic cases often present in adulthood with severe HF/CAD and reduced ATGL activity despite no PNPLA2 mutation. (pqac-00000001, pqac-00000002, pqac-00000011, pqac-00000014) | International registry (2014–2018): 7 primary and 18 idiopathic Japanese cases; 2025 excerpt also notes 7 primary and 18 idiopathic cases over 5 years. (pqac-00000011) | Kobayashi et al., 2020, doi:10.17996/anc.20-00131, https://doi.org/10.17996/anc.20-00131; Li et al., 2019, doi:10.1186/s13023-019-1087-4, https://doi.org/10.1186/s13023-019-1087-4; Nakamura, 2024, doi:10.3389/jpps.2024.12568, https://doi.org/10.3389/jpps.2024.12568; PMID: |
| Orphanet identifier | TGCV is encoded in Orphanet as an orphan disease. (pqac-00000014, pqac-00000011) | ORPHA code: 565612. (pqac-00000011, pqac-00000014) | Miyauchi et al., 2020, doi:10.17996/anc.20-00128, https://doi.org/10.17996/anc.20-00128; Hirano et al., 2025, doi:10.1038/s44161-025-00611-7, https://doi.org/10.1038/s44161-025-00611-7; PMID: |
| Diagnostic criteria | 2020 criteria: essential items = any of decreased myocardial 123I-BMIPP washout, myocardial TG deposition on biopsy, or myocardial TG deposition by CT/MR spectroscopy; major items = LVEF <40%, diffuse coronary narrowing/atherosclerosis on angiography or coronary CTA, or typical Jordan’s anomaly on peripheral smear; supportive items = diabetes mellitus, hemodialysis. Definite TGCV requires ≥1 essential + ≥1 major; probable TGCV requires ≥1 essential. (pqac-00000008, pqac-00000010, pqac-00000012, pqac-00000022) | BMIPP washout cutoff: <10%. Jordan’s anomaly definition in one excerpt: ≥90% granulocytes with multiple vacuoles ≥1 μm on May–Giemsa staining. (pqac-00000008, pqac-00000011) | Kobayashi et al., 2020, doi:10.17996/anc.20-00131, https://doi.org/10.17996/anc.20-00131; Chen et al., 2022, doi:10.1007/s12149-022-01787-9, https://doi.org/10.1007/s12149-022-01787-9; Hirano et al., 2024, doi:10.7793/jcad.30.005, https://doi.org/10.7793/jcad.30.005; PMID: |
| Epidemiology / case counts in Japan | Disease is likely underrecognized in Japan. Diagnosed case counts have risen steadily through registry/study-group efforts. (pqac-00000000, pqac-00000010, pqac-00000011, pqac-00000014, pqac-00000015) | 138 identified patients across 7 Japanese centers with 27 deaths (2018 criteria); >200 clinically diagnosed by 2020; 226 diagnosed by Nov 2019; 640 diagnoses in Japan by Dec 2022; >800 diagnosed cases reported in a 2024 review; estimated prevalence ~1 in 3,000 and/or 40,000–50,000 potential patients in Japan. (pqac-00000015, pqac-00000010, pqac-00000011, pqac-00000000, pqac-00000014) | Miyauchi et al., 2018, doi:10.17996/anc.18-00081, https://doi.org/10.17996/anc.18-00081; Kobayashi et al., 2020, doi:10.17996/anc.20-00131, https://doi.org/10.17996/anc.20-00131; Hirano et al., 2024, doi:10.7793/jcad.30.005, https://doi.org/10.7793/jcad.30.005; Hirano et al., 2025, doi:10.1038/s44161-025-00611-7, https://doi.org/10.1038/s44161-025-00611-7; PMID: |
| Prognosis / survival | TGCV has poor medium-term prognosis with substantial cardiovascular event burden. CKD is a major adverse prognostic factor; diabetes, hypertension, and dyslipidemia did not increase mortality in one registry analysis. (pqac-00000000, pqac-00000016, pqac-00000018) | 5-year overall survival 71.8%; 5-year cardiovascular event-free survival 54.0%. Registry analysis: 3-year OS 80.1%, 5-year OS 71.8%. With CKD vs no CKD: 3-year survival 71.3% vs 91.7%; 5-year survival 61.8% vs 84.4%; HR for mortality 2.33 (95% CI 1.12–4.86). (pqac-00000000, pqac-00000009) | Hirano et al., 2024, doi:10.7793/jcad.30.005, https://doi.org/10.7793/jcad.30.005; Nagasawa et al., 2025, doi:10.1007/s10157-024-02618-z, https://doi.org/10.1007/s10157-024-02618-z; NCT05345223, https://clinicaltrials.gov/study/NCT05345223; PMID: |
| Treatment evidence: tricaprin / CNT-01 | Disease-specific therapy development centers on tricaprin (CNT-01), a medium-chain triglyceride formulation intended to improve myocardial lipolysis. Early-phase and randomized studies suggest improved BMIPP-WR; case-level 1H-MRS data support reduction of myocardial TG content. Registry analyses also compare outcomes before/after tricaprin. (pqac-00000020, pqac-00000016, pqac-00000019) | Phase I/IIa CNT-01 study: 500 mg orally three times daily for 14 days (+ single day-15 dose), n=5. Phase IIa randomized trial: 1.5 g/day for 8 weeks, n=17; delta BMIPP-WR −0.26±3.28% placebo vs +7.08±3.28% CNT-01, p=0.035 after exclusion of pseudonormalization case. Case report: BMIPP-WR improved 5.1%→13.3%; myocardial TG by 1H-MRS decreased 8.4%→5.9% after 8 weeks of 1.5 g/day CNT-01, with no adverse effects. (pqac-00000019, pqac-00000020) | Miyauchi et al., 2022, doi:10.17996/anc.22-00167, https://doi.org/10.17996/anc.22-00167; Aikawa et al., 2023, doi:10.1530/EDM-22-0370, https://doi.org/10.1530/EDM-22-0370; NCT02502578, https://clinicaltrials.gov/study/NCT02502578; PMID: |
| Registry / implementation | Real-world implementation in Japan includes national/international registries, BMIPP scintigraphy workflows, and long-term retrospective cohort follow-up to define natural history and treatment-associated changes. (pqac-00000016, pqac-00000018, pqac-00000021) | NCT05345223: completed observational registry, n=193 adults, start 2022-03-31, completion 2023-12-31, 10-year outcome framework. NCT02918032: recruiting international NLSD/TGCV registry, target n=120. (pqac-00000016, pqac-00000021) | NCT05345223, https://clinicaltrials.gov/study/NCT05345223; NCT02918032, https://clinicaltrials.gov/study/NCT02918032; Hirano et al., 2025, doi:10.1038/s44161-025-00611-7, https://doi.org/10.1038/s44161-025-00611-7; PMID: |


*Table: Compact knowledge-base summary of idiopathic and primary triglyceride deposit cardiomyovasculopathy, covering definition, identifiers, diagnostics, epidemiology, prognosis, and treatment evidence with citations to available evidence contexts.*