Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy

• Hirono Keiichi

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Hata Yukiko

  Legal Medicine, Graduate School of Medicine, University of Toyama

• Nakazawa Makoto

  Department of Pediatric and Lifelong Congenital Cardiology Institute, Southern Tohoku Research Institute for Neuroscience, Southern Tohoku General Hospital

• Momoi Nobuo

  Department of Pediatrics, Fukushima Medical University

• Tsuji Tohru

  Department of Pediatrics, Fukushima Medical University

• Matsuoka Taro

  Department of Pediatrics, Toyonaka Municipal Hospital

• Ayusawa Mamoru

  Department of Pediatrics and Child Health, Nihon University School of Medicine

• Abe Yuriko

  Department of Pediatrics and Child Health, Nihon University School of Medicine

• Hayashi Tamaki

  Department of Pediatrics, Nara Medical University

• Tsujii Nobuyuki

  Department of Pediatrics, Nara Medical University

• Abe Tadaaki

  Department of Pediatrics, Niigata City General Hospital

• Sakaguchi Heima

  Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center

• Wang Ce

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Takasaki Asami

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Takarada Shinya

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Okabe Mako

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Miyao Nariaki

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Nakaoka Hideyuki

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Ibuki Keijiro

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Saito Kazuyoshi

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Ozawa Sayaka

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

• Nishida Naoki

  Legal Medicine, Graduate School of Medicine, University of Toyama

• Bowles Neil E.

  Department of Occupational and Environmental Health and Safety, University of Utah

• Ichida Fukiko

  Department of Pediatrics, Graduate School of Medicine, University of Toyama

Abstract

Background: Left ventricular non-compaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium and numerous prominent trabeculations, and is often associated with dilated cardiomyopathy (DCM). Variants in the gene encoding tafazzin (TAZ) may change mitochondrial function and cause dysfunction of many organs, but they also contribute to the DCM phenotype in LVNC, and the clinical and echocardiographic features of children with this phenotype are poorly understood. Methods and Results: We enrolled 92 DCM phenotype LVNC patients and performed next-generation sequencing to identify the genetic etiology. Ten TAZ variants were identified in 15 male patients (16.3%) of the 92 patients, including 3 novel missense substitutions. The patients with TAZ variants had a higher frequency of early onset of disease (92.3% vs. 62.3%, P=0.0182), positive family history (73.3% vs. 20.8%, P=0.0001), and higher LV posterior wall thickness Z-score (8.55±2.60 vs. 5.81±2.56, P=0.0103) than those without TAZ variants, although the mortality of both groups was similar. Conclusions: This study provides new insight into the impact of DCM phenotype LVNC and emphasizes the clinical advantages available for LVNC patients with TAZ variants.

Journal

• Circulation Journal

  Circulation Journal 82 (10), 2609-2618, 2018-09-25

  The Japanese Circulation Society

Keywords

• Cardiomyopathy
• Left ventricular non-compaction
• Tafazzin (<i>TAZ</i>)

Details

• CRID: 1390564238025442432
• NII Article ID: 130007487877
• NII Book ID: AA11591968
• DOI: 10.1253/circj.cj-18-0470
• ISSN: 13474820
• ISSN: 13469843
• NDL BIB ID: 029230160
• PubMed: 30122738
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I029230160
• Web Site: https://www.jstage.jst.go.jp/article/circj/82/10/82_CJ-18-0470/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2019149442
• Text Lang: en
• Data Source:
  • JaLC
  • NDL
  • Crossref
  • PubMed
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed