Imaging Modalities for Triglyceride Deposit Cardiomyovasculopathy

Triglyceride deposit cardiomyovasculopathy (TGCV) is a novel clinical entity we found in patients with severe heart failure waiting for cardiac transplantation. The probands carried genetic mutations in adipose triglyceride lipase (ATGL), which is an essential molecule for the intracellular hydrolysis of TG. Patients with TGCV showed ectopic accumulation of TG in cardiomyocytes and smooth muscle cells resulting from the abnormal intracellular metabolism of TG and its substrates, long chain fatty acids (LCFAs). Our postmortem analyses demonstrated substantial numbers of autopsied individuals with TGCV phenotype, whose expression of ATGL was conserved. These results suggest that TGCV might be difficult to diagnose in daily clinics, however be more prevalent than expected, and a possible important cause of cardiac death. This review article focuses on imaging modalities to evaluate cardiomyovascular TG accumulation of this novel disease. Data and images are shown from pathological analyses, imaging mass spectrometry, myocardial scintigraphy with a radioactive analogue for LCFA, iodine-123-β-methyl iodophenyl-pentadecanoic acid, MR spectroscopy, and CT-based TG imagings in primary TGCV patients with genetic ATGL deficiency, which is ultra-rare, but the monogenic model.