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Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

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Abstract

Barth syndrome (BTHS) is an X-linked disorder characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ). Although early diagnosis is critical to prevent the progression of heart failure, this disease remains unrecognized when heart failure is not clinically significant. Here we report on a 13-year-old boy with no family history of BTHS who was diagnosed with the syndrome in the subclinical stage of heart failure. The clues to the diagnosis of BTHS in this patient were the findings of lipid storage myopathy in the skeletal muscle biopsy, elevated plasma brain natriuretic peptide, and the diagnosis of isolated noncompaction of the ventricular myocardium in echocardiography. Genetic studies of TAZ revealed a disease-causing mutation (p.Gly216Arg) in this patient. Physicians should be aware of the possibility of this disease and carry out genetic studies when it is considered.

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Abbreviations

BTHS:

Barth syndrome

BNP:

Brain natriuretic peptide

COX:

Cytochrome c oxidase

MR:

Magnetic resonance

INVM:

Isolated noncompaction of the ventricular myocardium

ACE-I:

Angiotensin-converting enzyme inhibitor

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Conflict of interest

The authors declare that they have no conflict of interest nor any financial relations with the sponsoring organization.

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Authors and Affiliations

  1. Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15, West 7, Kita-ku, Sapporo, 060-8638, Japan

    Atsuhito Takeda, Masafumi Yamada, Hirokuni Yamazawa & Tadashi Ariga

  2. Department of Pediatrics, Sapporo City General Hospital, 1-1, North 11, West 13, Chuo-ku, Sapporo, 060-8604, Japan

    Akira Sudo

  3. Department of Pediatric Cardiology, Tokyo Women’s Medical University, 8-1 Kawada-cho, Shinjukuku, Tokyo, 162-8666, Japan

    Gaku Izumi

  4. National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan

    Ichizo Nishino

Authors
  1. Atsuhito Takeda
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  2. Akira Sudo
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  3. Masafumi Yamada
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  4. Hirokuni Yamazawa
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  5. Gaku Izumi
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  6. Ichizo Nishino
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  7. Tadashi Ariga
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Correspondence to Atsuhito Takeda.

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Takeda, A., Sudo, A., Yamada, M. et al. Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. Eur J Pediatr 170, 1481–1484 (2011). https://doi.org/10.1007/s00431-011-1576-5

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  • DOI: https://doi.org/10.1007/s00431-011-1576-5

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