Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Ming Li†,
Ken-ichi Hirano†Email author,
Yoshihiko Ikeda,
Masahiro Higashi,
Chikako Hashimoto,
Bo Zhang,
Junji Kozawa,
Koichiro Sugimura,
Hideyuki Miyauchi,
Akira Suzuki,
Yasuhiro Hara,
Atsuko Takagi,
Yasuyuki Ikeda,
Kazuhiro Kobayashi,
Yoshiaki Futsukaichi,
Nobuhiro Zaima,
Satoshi Yamaguchi,
Rojeet Shrestha,
Hiroshi Nakamura,
Katsuhiro Kawaguchi,
Eiryu Sai,
Shu-Ping Hui,
Yusuke Nakano,
Akinori Sawamura,
Tohru Inaba,
Yasuhiko Sakata,
Yoko Yasui,
Yasuyuki Nagasawa,
Shintaro Kinugawa,
Kazunori Shimada,
Sohsuke Yamada,
Hiroyuki Hao,
Daisaku Nakatani,
Tomomi Ide,
Tetsuya Amano,
Hiroaki Naito,
Hironori Nagasaka,
Kunihisa Kobayashi and
on behalf of the Japan TGCV study group

†Contributed equally

Orphanet Journal of Rare Diseases201914:134

https://doi.org/10.1186/s13023-019-1087-4

Received: 2 January 2019
Accepted: 1 May 2019
Published: 11 June 2019

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.