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Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction

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Abstract

Barth syndrome is an X-linked disorder usually diagnosed in infancy. It is characterized by hypotonia, dilated cardiomyopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria. The syndrome is typically caused by mutations in the TAZ (G4.5) gene, which encodes a novel protein family called the tafazzins. We report the case of two brothers with Barth syndrome and left ventricular noncompaction (LVNC) caused by a splice donor mutation in TAZ. Both had impaired sucking ability at the age of 2 months. The elder brother was diagnosed with LVNC at the age of 4 months; by that time he had developed severe heart failure with metabolic decompensation. He died at 12 months of age due to intractable heart failure despite pharmacological therapy with diuretics, an angiotensin-converting enzyme inhibitor, and a beta-blocker. However, the younger brother, who was diagnosed as having Barth syndrome and LVNC with heart failure at the age of 2 months, received early medical treatment and demonstrated normal echocardiographic findings. Conclusion: The clinical courses of Barth syndrome observed in our cases show the phonotypic variability of this syndrome and suggest that early therapy may be beneficial for maintaining cardiac function.

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Authors and Affiliations

  1. Department of Pediatrics, Fukushima Medical University School of Medicine, 1 Hikarigaoka, Fukushima, 960-1295, Japan

    Nobuo Momoi, Izumi Takeda, Yoshimichi Aoyagi & Kisei Endo

  2. Department of Pediatrics, Toyama University, 2630 Sugitani, Toyama, 930-0194, Japan

    Bo Chang & Fukiko Ichida

Authors
  1. Nobuo Momoi
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  2. Bo Chang
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  3. Izumi Takeda
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  4. Yoshimichi Aoyagi
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  5. Kisei Endo
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  6. Fukiko Ichida
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Correspondence to Nobuo Momoi.

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Momoi, N., Chang, B., Takeda, I. et al. Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction. Eur J Pediatr 171, 515–520 (2012). https://doi.org/10.1007/s00431-011-1597-0

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  • DOI: https://doi.org/10.1007/s00431-011-1597-0

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