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Triglyceride Deposit Cardiomyovasculopathy

  • Ken-ichi HiranoEmail author
  • Ming Li
  • Yoshihiko Ikeda
Chapter

Abstract

Triglyceride deposit cardiomyovasculopathy (TGCV) is a novel disease concept we found in Japanese cardiac transplant candidates in 2008. Probands carried mutations in the PNPLA2 gene encoding adipose triglyceride lipase (ATGL). ATGL is the major enzyme that catalyzes the initial rate-limiting step of intracellular triglyceride hydrolysis to release free nonesterified long-chain fatty acids (LCFAs), which is an essential energy source for the normal heart. Patients with TGCV show ectopic accumulation of triglycerides in cardiomyocytes and smooth muscle cells resulting from abnormal intracellular metabolism of triglycerides and LCFA. TGCV is classified into primary and idiopathic TGCV with and without genetic ATGL deficiency, respectively. Both types of TGCV patients suffer from severe heart failure, arrhythmia, and coronary artery disease caused by lipotoxicity and energy failure at cellular levels. The Japan TGCV study group provided the diagnostic guideline and has been trying to develop a nutritional therapeutics with medium-chain fatty acids in order to overcome this intractable disease one day earlier. In this chapter, we describe clinical signs and symptoms, laboratory findings, diagnosis, and possible therapies of TGCV.

Keywords

Adipose triglyceride lipase Heart failure Long-chain fatty acids Triglyceride deposit cardiomyovasculopathy Triglyceride 

Abbreviations

ATGL

Adipose triglyceride lipase

BMI

Body mass index

BMIPP

β-Methyl-p-[123I]-iodophenyl-pentadecanoic acid

CABG

Coronary artery bypass grafting

CTx

Cardiac transplantation

HF

Heart failure

LCFAs

Long-chain fatty acids

LV

Left ventricle

NLSD-I

Neutral lipid storage disease with ichthyosis

NLSD-M

Neutral lipid storage disease with myopathy

PCI

Percutaneous coronary intervention

SMCs

Smooth muscle cells

SPECT

Single-photon emission computed tomography

TG

Triglyceride

TGCV

Triglyceride deposit cardiomyovasculopathy

WOR

Washout rate

Notes

Acknowledgments

This was partially supported by research grants for rare and intractable diseases from the Japan Agency of Medical Research and Development (AMED) (Grant No. 17ek0109092h0003) and from the Ministry of Health, Labour, and Welfare of Japan.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of Cardiovascular Medicine, Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of MedicineOsaka UniversitySuitaJapan
  2. 2.Department of PathologyNational Cerebral and Cardiovascular CenterOsakaJapan

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