Clinical findings of triglyceride deposit cardiomyovasculopathy

Abstract

Abstract Background Triglyceride (TG) deposit cardiomyovasculopathy (TGCV) is a novel cardiovascular disorder and was recently encoded as an orphan disease in Europe (ORPHA code: 565612). Defective intracellular lipolysis results in TG accumulation in the myocardium and coronary arteries in TGCV. The myocardial washout rate (WR) of iodine-123-β-methyl-p-iodophenylpentadecanoic acid (BMIPP) is an essential indicator to evaluate myocardial lipolysis in vivo, and decreased WR (<10%) of BMIPP is one of the essential items of diagnostic criteria for TGCV. Purpose To clarify clinical findings of TGCV including comorbid conditions and laboratory findings. Methods We enrolled 234 patients who underwent BMIPP scintigraphy between September 2015 and July 2019. The distributions of TGCV in each comorbidity, cardiac functions and laboratory findings were investigated. Results In total, 104 patients were diagnosed with definitive TGCV. The BMIPP WR of TGCV patients was −1.37±10.6%. TGCV patients had various comorbid conditions, including coronary artery disease (75%), diabetes mellitus (56%), and heart failure (21%). Left ventricular ejection fraction (LVEF) of TGCV patients was significantly lower than that of non-TGCV patients (38.1±18.0% vs. 43.6±18.9%, p-value=0.026). Moreover, among those who did not take lipid-lowering drugs, there was no difference in the serum TG level between TGCV and non-TGCV patients (TGCV: n=44, 127±84.6 mg/dL, non-TGCV: n=66, 133±70.7 mg/dL, p-value=0.73). Conclusions TGCV patients showed multiple coexistence of coronary artery disease, diabetes mellitus, or heart failure with lower LVEF. Serum TG level was not significantly different between TGCV and non-TGCV patients. Serum TG did not affect the intracellular TG accumulation in TGCV patients directly, and this result was consistent with the pathophysiological hypothesis that the TG accumulation in the myocardial cytoplasm is due to intracellular lipase dysfunction. Funding Acknowledgement Type of funding sources: None.