Primary triglyceride deposit cardiomyovasculopathy

MONDO:0035423

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.

Also known as: P-TGCV, primary neutral lipid storage disease with severe cardiovascular involvement

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