BARTH SYNDROME IN PRACTICE OF CARDIOLOGY

Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric development. In the article, a clinical case provided of the Barth syndrome, confirmed by target sequencing of TAZ gene in a boy of 1st year of life, presented in 3 months age by an episode of infectious disease and dilation cardiomyopathy, with family anamnesis of sudden death at the moment of infectious disease in the grand uncle of proband. In dynamics, the patient showed delayed motoric development, as the delay in mass and height (<3 percentile), persistent absolute neutropenia, stable high levels of cardiospecific enzymes, NT-proBNP, symptomes of severe heart failure with following fatal outcome at age of 12 months from sudden death during an episode of infectious disease. The multidisciplinarity presented, as the necessity for clear understanding by practitioners of the specifics

Barth syndrome, dilation cardiomyopathy, non-compaction myocardium, sudden death, neutropenia, myopathy

1. Melnik OV, Gudkova AYa, Vershinina TL, et al. Clinical polymorphism of RASopathies in terms of the children’s cardiology department. Consilium Medicum 2017; 19 (12): 100-4. (In Russ.) Мельник О. В., Гудкова А. Я., Вершинина Т. Л. и др. Клинический полиморфизм РАСопатий в условиях детского кардиологического отделения. Consilium Medicum 2017; 19 (12): 100-4. DOI: 10.26442/2075-1753_19.12.100-104.

2. Barth PG, Van’t Veer-Korthof ET, Van Delden L, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. In: Busch H. F. M., Jennekens F. G. I., Schotte H. R. (eds.). Mitochondria and Muscular Diseases. Beetsterzwaag, The Netherlands: Mefar (pub.), 1981: 161-4.

3. Barth Syndrome Foundation. http://www.barthsyndrome.org.

4. Ronvelia D, Greenwood J, Platt J, et al. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. Molecular Genetics and Metabolism 2012; 107: 428-32. DOI: 10.1016/j.ymgme.2012.09.013.

5. Bowron A, Honeychurch J, Williams M, et al. Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. Journal of Inherited Metabolic Disease 2015; 38 (2): 279-86. DOI: 10.1007/s10545-014-9747-y.

6. Rigaud C, Lebre A, Touraine R, et al. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis 2013; 8: 70. DOI: 10.1186/17501172-8-70.

7. Jefferies JL. Barth syndrome. American Journal of medical genetics. Part C, seminars in medical genetics 2013; 163 (3): 198-205. DOI: 10.1002/ajmg.c.31372.

8. Reynolds S. Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. Journal of Multidisciplinary Healthcare 2015; 8: 345-58. DOI: 10.2147/JMDH.S54802.

9. Clarke SL, Bowron A, Gonzalez IL, et al. Barth syndrome. Orphanet Journal of Rare Disease 2013; 8: 23. DOI: 10.1186/1750-1172-8-23.

10. Ferreira C, Thompson R, Vernon H. Barth syndrome. In: Pagon R. A., Adam M. P., Ardinger H. H. et al. Source-GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 2014; Initial Posting: October 9, 2014. https://www.ncbi.nlm.nih.gov/books/NBK247162/.

11. Richards S, Aziz N, Bale S, et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine 2015; 17(5): 405-24. DOI: 10.1038/gim.2015.30.

12. Cosson L, Toutain A, Simard G, et al. Barth syndrome in a female patient. Molecular Genetics and Metabolism 2012; 106: 115-20. DOI: 10.1016/j.ymgme.2012.01.015.

13. Ferri L, Dionisi-Vici C, Taurisano R, et al. When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. Clinical Genetics 2016; 90 (5): 461-5. DOI: 10.1111/cge.12756.

14. Wang C, Hata Y, Hirono K, et al. A wide and specific spectrum of genetic variants and genotype-phenotype correlations revealed by next-generation sequencing in patients with left ventricular noncompaction. Journal of American Heart Association 2017; 6 (9): e006210. DOI: 10.1161/JAHA.117.006210.