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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2019

Open Access 01-12-2019 | Heart Failure | Letter to the Editor

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Authors: Ming Li, Ken-ichi Hirano, 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, on behalf of the Japan TGCV study group

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

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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.
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Metadata
Title
Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder
Authors
Ming Li
Ken-ichi Hirano
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
on behalf of the Japan TGCV study group
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-019-1087-4

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