primary triglyceride deposit cardiomyovasculopathy
Findings
No curated finding names primary triglyceride deposit cardiomyovasculopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.
Definition from the Mondo Disease Ontology (MONDO:0035423), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiomyocyte morphologyHPOHP:0031331
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Increased muscle lipid contentHPOHP:0009058
- Very frequent (80% to 99% of cases)
- Skeletal myopathyHPOHP:0003756
- Very frequent (80% to 99% of cases)
- Vacuolated lymphocytesHPOHP:0001922
- Very frequent (80% to 99% of cases)
- Abnormal calf musculature morphologyHPOHP:0001430
- Frequent (30% to 79% of cases)
Show the remaining 16
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HyperlipidemiaHPOHP:0003077
- Frequent (30% to 79% of cases)
- Low-output congestive heart failureHPOHP:0009805
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: primary triglyceride deposit cardiomyovasculopathy
- Also called
- P-TGCVprimary neutral lipid storage disease with severe cardiovascular involvement