Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase

Masahiro Higashi; Ken-ichi Hirano; Kazuhiro Kobayashi; Yoshihiko Ikeda; Ami Issiki; Tetsuo Otsuka; Akira Suzuki; Satoshi Yamaguchi; Nobuhiro Zaima; Seiki Hamada; Hironori Hanada; Chieko Suzuki; Hiroshi Nakamura; Hironori Nagasaka; Toshiyuki Miyata; Yoshihiro Miyamoto; Kunihisa Kobayashi; Hiroaki Naito; Tatsushi Toda

doi:10.1016/j.ijcard.2015.05.004

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase

Int J Cardiol. 2015 Aug 1:192:30-2. doi: 10.1016/j.ijcard.2015.05.004. Epub 2015 May 6.

Authors

Masahiro Higashi¹, Ken-ichi Hirano², Kazuhiro Kobayashi³, Yoshihiko Ikeda⁴, Ami Issiki⁵, Tetsuo Otsuka⁶, Akira Suzuki⁷, Satoshi Yamaguchi⁷, Nobuhiro Zaima⁸, Seiki Hamada⁹, Hironori Hanada¹⁰, Chieko Suzuki¹¹, Hiroshi Nakamura¹², Hironori Nagasaka¹³, Toshiyuki Miyata¹⁰, Yoshihiro Miyamoto¹⁴, Kunihisa Kobayashi¹⁵, Hiroaki Naito¹⁶, Tatsushi Toda³

Affiliations

¹ Department of Radiology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan. Electronic address: [email protected].
² Laboratory for Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan; Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka 565-0871, Japan. Electronic address: [email protected].
³ Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
⁴ Department of Pathology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.
⁵ Department of Cardiology, Saitama Medical Center, Saitama University, Saitama 350-8550, Japan.
⁶ Wakinosawa Clinic, Wakinosawa, Mutsu 039-5331, Japan.
⁷ Laboratory for Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
⁸ Department of Applied Biological Chemistry, Graduate School of Agriculture, Kinki University, Nara 631-8505, Japan.
⁹ MI Clinic, Toyonaka, Osaka 565-0004, Japan.
¹⁰ Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka 565-8565, Japan.
¹¹ Department of Neurology, Aomori Prefectural Central Hospital, Aomori 030-8553, Japan.
¹² Hiroshima-Nishi Medical Center, National Hospital Organization, Ootake 739-0696, Japan.
¹³ Department of Pediatrics, Takarazuka City Hospital, Takarazuka 665-0827, Japan.
¹⁴ Department of Preventive Cardiology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.
¹⁵ Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, Chikushino, Fukuoka 818-8502, Japan.
¹⁶ Director General of the Hospital, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.

PMID: 25985012
DOI: 10.1016/j.ijcard.2015.05.004

No abstract available

Keywords: Adipose triglyceride lipase; Cardiac phenotype; Cardiomyopathy; Jordans' anomaly; Neutral lipid storage disease with myopathy; Triglyceride; Triglyceride deposit cardiomyovasculopathy.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathy, Dilated / genetics*
Female
Heart Failure / genetics*
Homozygote*
Humans
Japan
Lipase / genetics*
Male
Mutation*
Phenotype
Rare Diseases / diagnosis
Rare Diseases / genetics

Substances

Lipase
PNPLA2 protein, human