Orphanet Journal of Rare Diseases (Jun 2019)
Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder
- 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
Affiliations
- Ming Li
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Ken-ichi Hirano
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Yoshihiko Ikeda
- Department of Pathology, National Cerebral and Cardiovascular Center
- Masahiro Higashi
- Department of Radiology, National Hospital Organization Osaka National Hospital
- Chikako Hashimoto
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Bo Zhang
- Department of Biochemistry, Fukuoka University Medical School
- Junji Kozawa
- Department of Metabolic Medicine, Graduate School of Medicine, Osaka University
- Koichiro Sugimura
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine
- Hideyuki Miyauchi
- Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine
- Akira Suzuki
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Yasuhiro Hara
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Atsuko Takagi
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Yasuyuki Ikeda
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Kazuhiro Kobayashi
- Division of Molecular Brain Science, Kobe University Graduate School of Medicine
- Yoshiaki Futsukaichi
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Nobuhiro Zaima
- Department of Applied Biological Chemistry, Graduate School of Agriculture, Kindai University
- Satoshi Yamaguchi
- Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University
- Rojeet Shrestha
- Faculty of Health Sciences, Hokkaido University
- Hiroshi Nakamura
- Kure Medical Center and Chugoku Cancer Center, National Hospital Organization
- Katsuhiro Kawaguchi
- Department of Cardiovascular Medicine, Komaki City Hospital
- Eiryu Sai
- Department of Cardiovascular Medicine, Juntendo University Graduate School of Medicine
- Shu-Ping Hui
- Faculty of Health Sciences, Hokkaido University
- Yusuke Nakano
- Department of Cardiology, Aichi Medical University
- Akinori Sawamura
- Department of Cardiovascular Medicine, Graduate School of Medicine, Nagoya University
- Tohru Inaba
- Department of Infection Control and Laboratory Medicine, Kyoto Prefectural University of Medicine
- Yasuhiko Sakata
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine
- Yoko Yasui
- Faculty of Human Life Science, Osaka City University
- Yasuyuki Nagasawa
- Department of Internal Medicine, Division of Kidney and Dialysis, Hyogo College of Medicine
- Shintaro Kinugawa
- Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine
- Kazunori Shimada
- Department of Cardiovascular Medicine, Juntendo University Graduate School of Medicine
- Sohsuke Yamada
- Department of Pathology and Laboratory Medicine, Kanazawa Medical University
- Hiroyuki Hao
- Department of Pathology, Nihon University School of Medicine
- Daisaku Nakatani
- Center for Global Health, Department of Medical Innovation, Osaka University Hospital.4F Center of Medical Innovation and Translational Research
- Tomomi Ide
- Department of Cardiovascular Medicine, Graduate School of Medicine, Kyushu University
- Tetsuya Amano
- Department of Cardiology, Aichi Medical University
- Hiroaki Naito
- Department of Radiology, Nippon Life Hospital
- Hironori Nagasaka
- Department of Pediatrics, Takarazuka City Hospital
- Kunihisa Kobayashi
- Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital
- on behalf of the Japan TGCV study group
- DOI
- https://doi.org/10.1186/s13023-019-1087-4
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 9
Abstract
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
