Diagnostic Criteria and Severity Score for Triglyceride Deposit Cardiomyovasculopathy

Abstract

Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare and intractable disease, first reported in Japanese patients with congestive heart failure (HF) requiring heart transplant. TGCV is characterized by the excessive accumulation of triglyceride (TG) in cardiomyocytes and vascular smooth muscle cells, which leads to coronary artery disease, HF, and arrhythmia. In TGCV, long-chain fatty acid (LCFA), a major energy source for the normal heart, accumulates as TG in cytoplasmic lipid droplets. In 2009, we launched the Japan TGCV study group to elucidate the pathophysiology of TGCV and have developed diagnostic procedures along with specific treatment. Single-photon emission computed tomography (SPECT) with iodine-123-β-methyl iodophenyl-pentadecanoic acid (BMIPP), a radioactive analogue for LCFA, is a useful diagnostic tool to detect impaired myocardial LCFA metabolism in TGCV. Since we posted the latest version of diagnostic criteria including the myocardial washout rate of BMIPP in SPECT in 2016, we have identified 138 patients with TGCV, 27 of whom have died. More recently, we developed a TGCV severity score consisting of specific questionnaires in order to assess symptoms and activities of daily living in patients with TGCV.