Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report

Joel A. Vanderniet; Paul Z. Benitez-Aguirre; Carolyn R. Broderick; Richard I. Kelley; Shanti Balasubramaniam

doi:10.1515/jpem-2020-0666

Article

Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report

Joel A. Vanderniet , Paul Z. Benitez-Aguirre , Carolyn R. Broderick , Richard I. Kelley and Shanti Balasubramaniam

Published/Copyright: April 13, 2021

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 34 Issue 7

Abstract

Objectives

To describe the metabolic and endocrine features of a patient with Barth syndrome who showed evidence of growth hormone resistance.

Case presentation

A male proband deteriorated rapidly with lactic acidosis after a circumcision at age three weeks and was found to have severe dilated cardiomyopathy. A cardiomyopathy gene panel led to the diagnosis of TAZ-deficiency Barth syndrome. He subsequently experienced hypotonia and gross motor delay, feeding difficulties for the first four years, constitutional growth delay and one episode of ketotic hypoglycaemia. Cardiomyopathy resolved on oral anti-failure therapy by age three years. He had a hormonal pattern of growth hormone resistance, and growth hormone treatment was considered, however height velocity improved spontaneously after age 3½ years. He also had biochemical primary hypothyroidism.

Conclusions

With careful metabolic management with l-arginine supplementation, overnight corn starch, and a prescribed exercise program, our patient’s strength, endurance, level of physical activity and body composition improved significantly by age six years.

Keywords: Barth syndrome; exercise; growth hormone

Corresponding author: Joel A. Vanderniet, MBBS, Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Locked Bag 4001, Sydney 2145, NSW, Australia, E-mail: joel.vanderniet@health.nsw.gov.au

Acknowledgments

None.

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.

References

1. Clarke, S, Bowron, A, Gonzalez, I, Groves, S, Newbury-Ecob, R, Clayton, N, et al.. Barth syndrome. Orphanet J Rare Dis 2013;8:23. https://doi.org/10.1186/1750-1172-8-23.Search in Google Scholar

2. Schlame, M, Kelley, R, Feigenbaum, A, Towbin, J, Heerdt, P, Schieble, T, et al.. Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol 2003;42:1994–9. https://doi.org/10.1016/j.jacc.2003.06.015.Search in Google Scholar

3. Thompson, WR, DeCroes, B, McClellan, R, Rubens, J, Vaz, FM, Kristaponis, K, et al.. New targets for monitoring and therapy in Barth syndrome. Genet Med 2016;18:1001–10. https://doi.org/10.1038/gim.2015.204.Search in Google Scholar

4. Cosson, L, Toutain, A, Simard, G, Kulik, W, Matyas, G, Guichet, A, et al.. Barth syndrome in a female patient. Mol Genet Metabol 2012;106:115–20. https://doi.org/10.1016/j.ymgme.2012.01.015.Search in Google Scholar

5. Avdjieva-Tzavella, DM, Todorova, AP, Kathom, HM, Ivanova, MB, Yordanova, IT, Todarov, TP, et al.. Barth syndrome in male and female siblings caused by a novel mutation in the TAZ gene. Genet Counsel 2016;27:495–501.Search in Google Scholar

6. Barth Syndrome Foundation. Human Tafazzin gene variants database. Available from: https://www.barthsyndrome.org/research/tafazzindatabase.html [Accessed 10 Oct 2020].Search in Google Scholar

7. Spencer, C, Bryant, R, Day, J, Gonzalez, I, Colan, S, Thompson, W, et al.. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006;118:e337–46. https://doi.org/10.1542/peds.2005-2667.Search in Google Scholar

8. Vernon, H, Sandlers, Y, McClellan, R, Kelley, R. Clinical laboratory studies in Barth syndrome. Mol Genet Metabol 2014;112:143–7. https://doi.org/10.1016/j.ymgme.2014.03.007.Search in Google Scholar

9. Redei, GP. Glucogenic amino acids. In: Encyclopedia of genetics, genomics, proteomics and informatics [Internet]. Dordrecht: Springer; 2008. Available from: https://doi.org/10.1007/978-1-4020-6754-9_6938 [Accessed 11 Feb 2021].Search in Google Scholar

10. Roberts, A, Nixon, C, Steward, C, Gauvreau, K, Maisenbacher, M, Fletcher, M, et al.. The Barth syndrome registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A 2012;158A:2726–32. https://doi.org/10.1002/ajmg.a.35609.Search in Google Scholar

11. Cade, WT, Reeds, DN, Peterson, LR, Bohnert, KL, Tinius, RA, Benni, PB, et al.. Endurance exercise training in young adults with Barth syndrome: a pilot study. JIMD Rep 2017;32:15–24. https://doi.org/10.1007/8904_2016_553.Search in Google Scholar

12. Bittel, AJ, Bohnert, KL, Reeds, DN, Peterson, LR, Fuentes, LDL, Corti, M, et al.. Reduced muscle strength in Barth syndrome may be improved by resistance exercise training: a pilot study. JIMD Rep 2018;41:63–72. https://doi.org/10.1007/8904_2018_102.Search in Google Scholar

13. Hastings, R, Steward, C, Tsai-Goodman, B, Newbury-Ecob, R. Dysmorphology of Barth syndrome. Clin Dysmorphol 2009;18:185–7. https://doi.org/10.1097/mcd.0b013e32832a9e62.Search in Google Scholar

Received: 2020-11-23

Accepted: 2021-03-19

Published Online: 2021-04-13

Published in Print: 2021-07-27

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Articles in the same Issue

https://doi.org/10.1515/jpem-2020-0666

Keywords for this article

Barth syndrome; exercise; growth hormone