TY - JOUR
T1 - Triglyceride deposit cardiomyovasculopathy
T2 - A rare cardiovascular disorder
AU - Li, Ming
AU - Hirano, Ken Ichi
AU - Ikeda, Yoshihiko
AU - Higashi, Masahiro
AU - Hashimoto, Chikako
AU - Zhang, Bo
AU - Kozawa, Junji
AU - Sugimura, Koichiro
AU - Miyauchi, Hideyuki
AU - Suzuki, Akira
AU - Hara, Yasuhiro
AU - Takagi, Atsuko
AU - Ikeda, Yasuyuki
AU - Kobayashi, Kazuhiro
AU - Futsukaichi, Yoshiaki
AU - Zaima, Nobuhiro
AU - Yamaguchi, Satoshi
AU - Shrestha, Rojeet
AU - Nakamura, Hiroshi
AU - Kawaguchi, Katsuhiro
AU - Sai, Eiryu
AU - Hui, Shu Ping
AU - Nakano, Yusuke
AU - Sawamura, Akinori
AU - Inaba, Tohru
AU - Sakata, Yasuhiko
AU - Yasui, Yoko
AU - Nagasawa, Yasuyuki
AU - Kinugawa, Shintaro
AU - Shimada, Kazunori
AU - Yamada, Sohsuke
AU - Hao, Hiroyuki
AU - Nakatani, Daisaku
AU - Ide, Tomomi
AU - Amano, Tetsuya
AU - Naito, Hiroaki
AU - Nagasaka, Hironori
AU - Kobayashi, Kunihisa
N1 - Funding Information:
* Correspondence: khirano@cnt-osaka.com Ken-ichi Hirano: The principal investigator for the Japan TGCV study group supported by the grants from the Ministry of Health, Labour and Welfare and the Japan Agency for Medical Research and Development (A-MED) †Ming Li and Ken-ichi Hirano contributed equally to this work. 1Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University, 6–2-4, Furuedai, Suita, Osaka 565-0874, Japan Full list of author information is available at the end of the article
Funding Information:
This study was partially supported by research grants from the Ministry of Health, Labour and Welfare and the Japan Agency of Medical Research and Development (A-MED; grant no. 17ek0109092h0003), Nihon Medi-Physics Co., Ltd., and the Tochino Foundation to KH.
Publisher Copyright:
© 2019 The Author(s).
PY - 2019/6/11
Y1 - 2019/6/11
N2 - 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.
AB - 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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U2 - 10.1186/s13023-019-1087-4
DO - 10.1186/s13023-019-1087-4
M3 - Article
C2 - 31186072
AN - SCOPUS:85067170354
SN - 1750-1172
VL - 14
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 134
ER -