Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder
- PDF / 4,951,973 Bytes
- 9 Pages / 595.276 x 790.866 pts Page_size
- 58 Downloads / 164 Views
(2019) 14:134
LETTER TO THE EDITOR
Open Access
Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder Ming Li1†, Ken-ichi Hirano1*†, Yoshihiko Ikeda2, Masahiro Higashi3, Chikako Hashimoto1, Bo Zhang4, Junji Kozawa5, Koichiro Sugimura6, Hideyuki Miyauchi7, Akira Suzuki1, Yasuhiro Hara1, Atsuko Takagi1, Yasuyuki Ikeda1, Kazuhiro Kobayashi8, Yoshiaki Futsukaichi1, Nobuhiro Zaima9, Satoshi Yamaguchi1, Rojeet Shrestha10, Hiroshi Nakamura11, Katsuhiro Kawaguchi12, Eiryu Sai13, Shu-Ping Hui10, Yusuke Nakano14, Akinori Sawamura15, Tohru Inaba16, Yasuhiko Sakata6, Yoko Yasui17, Yasuyuki Nagasawa18, Shintaro Kinugawa19, Kazunori Shimada13, Sohsuke Yamada20, Hiroyuki Hao21, Daisaku Nakatani22,23, Tomomi Ide24, Tetsuya Amano14, Hiroaki Naito25, Hironori Nagasaka26, Kunihisa Kobayashi27, on behalf of the Japan TGCV study group
Abstract 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. Keywords: Adipose triglyceride lipase, Atherosclerosis, Rare disease, Triglyceride-deposit cardiomyovasculopathy, Triglyceride metabolism
Triglyceride (TG) and orphan diseases TG is a major energy source for mammals. In normal condition, TG is either received via the diet, or synthesized endogenously and stored in adipose tissues. When required, TG is hydrolyzed by various enzymes called lipases and releases long-chain fatty acid (LCFA), which is delivered to * Correspondence: [email protected] 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. 1 Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka U
Data Loading...
