Diagnostic Criteria and Severity Score for Triglyceride Deposit Cardiomyovasculopathy

Miyauchi, Hideaki; Hashimoto, Chikara; Ikeda, Yoshihiko; Li, Ming; Nakano, Yusuke; Kozawa, Junji; Sai, Eiryu; Nagasawa, Yasuyuki; Sugimura, Koichiro; Kinugawa, Shintaro; Kawaguchi, Katsuhiro; Shimada, Kazunori; Ide, Tomomi; Amano, Tetsuya; Higashi, Masahiro; Inaba, Tohru; Nakamura, Hiroshi; Kobayashi, Kazuo; Hirano, Ken‐ichi

doi:10.17996/anc.18-00081

Cited by 12 publications

(13 citation statements)

References 20 publications

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“…Myocardial disorders such as dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, mitochondrial cardiomyopathy, alcoholic heart disease, and metabolic myocardial disorders (e.g., Fabry disease, Pompe disease, cholesteryl ester storage disease) need to be differentiated from TGCV [41, 42].…”

Section: Differential Diagnosis Of Tgcvmentioning

confidence: 99%

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Hirano

Ikeda

et al. 2019

Orphanet J Rare Dis

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Triglyceride deposit cardiomyovasculopathy (TGCV) is a phenotype primarily reported in patients carrying genetic mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) which releases long chain fatty acid (LCFA) as a major energy source by the intracellular TG hydrolysis. These patients suffered from intractable heart failure requiring cardiac transplantation. Moreover, we identified TGCV patients without PNPLA2 mutations based on pathological and clinical studies . We provided the diagnostic criteria, in which TGCV with and without PNPLA2 mutations were designated as primary TGCV (P-TGCV) and idiopathic TGCV (I-TGCV), respectively. We hereby report clinical profiles of TGCV patients. Between 2014 and 2018, 7 P-TGCV and 18 I-TGCV Japanese patients have been registered in the International Registry. Patients with I-TGCV, of which etiologies and causes are not known yet, suffered from adult-onset severe heart disease, including heart failure and coronary artery disease, associated with a marked reduction in ATGL activity and myocardial washout rate of LCFA tracer, as similar to those with P-TGCV. The present first registry-based study showed that TGCV is an intractable, at least at the moment, and heterogeneous cardiovascular disorder.

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Section: Differential Diagnosis Of Tgcvmentioning

confidence: 99%

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Hirano

Ikeda

et al. 2019

Orphanet J Rare Dis

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“…tions and idiopathic TGCV without ATGL mutations (4,5). The criteria for TGCV include three essential and three major items (6).…”

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Triglyceride Deposit Cardiomyovasculopathy with Massive Myocardial Triglyceride which Was Proven Using Proton-magnetic Resonance Spectroscopy

et al. 2021

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The patient was a 73-year-old male with a history of hypertension, diabetes mellitus, dyslipidemia, rheumatoid arthritis, repeated percutaneous coronary intervention and percutaneous peripheral intervention procedures. He was frequently admitted to our hospital for congestive heart failure with orthopnea. The myocardial washout rate of iodine-123-β-methyl iodophenyl-pentadecanoic acid was defective on scintigraphy. He was diagnosed with triglyceride deposit cardiomyovasculopathy (TGCV). Proton magnetic resonance spectroscopy (1 H-MRS) indicated the level of myocardial triglyceride (TG) content to be extremely high (4.92%). This is the first report to confirm a massive accumulation of TG in the myocardium of a patient with TGCV using 1 H-MRS noninvasively.

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“…TGCV is a rare and intractable cardiovascular disorder that presents with severe heart failure, coronary artery disease, and arrhythmia (1)(2)(3)(4)(5). The pathophysiology of TGCV is characterized by excessive accumulation of TG in cardiomyocytes (6) and vascular smooth muscle cells (7,8) due to defective intracellular lipolysis.…”

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confidence: 99%

Correlation Perspectives for the Diagnosis of Idiopathic Triglyceride Deposit Cardiomyovasculopathy

Miyauchi

Iimori

Hoshi

et al. 2020

Annals of Nuclear Cardiology

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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 lipolysis results in TG accumulation in the myocardium and coronary arteries in TGCV. The myocardial washout rate (WR) of iodine-123-β-methyl iodophenyl-pentadecanoic acid (BMIPP) is an essential indicator to evaluate myocardial lipolysis in vivo. TGCV is classified into primary and idiopathic type with and without PNPLA2 mutation, respectively. Here, we present the clinical correlation perspectives of TGCV patients in Chiba, Japan, to increase the awareness of this orphan disease and facilitate its diagnosis. Methods: We enrolled 234 patients who underwent BMIPP scintigraphy between September 2015 and July 2019. The diagnosis of TGCV was made based on the criteria we reported previously. Blood smear tests were performed for TGCV classification. The distributions of TGCV in each comorbidity were investigated. Results: In total, 104 patients were diagnosed with definitive idiopathic TGCV (I-TGCV). They had various comorbid conditions, including heart failure with reduced ejection fraction and multivessel coronary artery disease requiring revascularization. Moreover, the serum TG levels in I-TGCV patients were not high, and there was no correlation between serum TG level and BMIPP WR (n=205, p-value=0. 31), supporting the pathophysiological hypothesis of TGCV. Conclusion: I-TGCV patients showed multiple coexistence of coronary artery disease, heart failure of unknown etiology, or diabetes mellitus. For patients with such clinical characteristics, BMIPP scintigraphy and calculation of WR should be considered proactively for the diagnosis of TGCV.

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Diagnostic Criteria and Severity Score for Triglyceride Deposit Cardiomyovasculopathy

Cited by 12 publications

References 20 publications

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Triglyceride Deposit Cardiomyovasculopathy with Massive Myocardial Triglyceride which Was Proven Using Proton-magnetic Resonance Spectroscopy

Correlation Perspectives for the Diagnosis of Idiopathic Triglyceride Deposit Cardiomyovasculopathy

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