СЛУЧАЙ СИНДРОМА БАРТА У ВЗРОСЛОГО: ОСОБЕННОСТИ ФЕНОТИПА КАРДИОМИОПАТИИ И КОМОРБИДНОСТИ
Аннотация
В статье представлен краткий обзор сведений относительно редкого наследственного заболевания «синдром Барта» и описание клинического случая. Особенностями данного случая является фенотип аритмогенной кардиомиопатии с преобладанием поражения правого желудочка, относительно «мягкое» течение и коморбидность с целиакией, и аутоиммунным тиреоидитом с гипотиреозом, и метаболическими нарушениями.
Литература
Shashel VA, Firsova VN, Trubilina MM, Podporina LA, Firsov NA. Orphan diseases and associated problems. Medical Herald of the South of Russia. 2021;12(2):28-35. https://doi.org/10.21886/2219-8075-2021-12-2-28-35. (Russian.)
Abozaid GM, Kerr K, McKnight A, Al-Omar HA. Criteria to define rare diseases and orphan drugs: a systematic review protocol. BMJ Open. 2022;12(7):e062126. https://doi.org/10.1136/bmjopen-2022-062126.
Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IE, Van 't Veer-Korthof ET, Van der Harten JJ, Sobotka-Plojhar MA. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. Journal of the neurological sciences. 1983;62(1):327-355. https://doi.org/10.1016/0022-510x(83)90209-5.
Finsterer J. Barth syndrome: mechanisms and management. The application of clinical genetics. 2019;12:95-106. https://doi.org/10.2147/TACG.S171481.
Jefferies JL. Barth syndrome. American journal of medical genetics. Part C, Seminars in medical genetics. 2013;163C(3):198-205. https://doi.org/10.1002/ajmg.c.31372.
Schlame M. Cardiolipin remodeling and the function of tafazzin. Biochimica et biophysica acta. 2013;1831(3):582-588. https://doi.org/10.1016/j.bbalip.2012.11.007.
Sandlers Y, Mercier K, Pathmasiri W, Carlson J, McRitchie S, Sumner S, Vernon HJ. Metabolomics reveals new mechanisms for pathogenesis in Barth syndrome and introduces novel roles for cardiolipin in cellular function. PLoS One. 2016;11(3):e0151802. https://doi.org/10.1371/journal.pone.0151802.
Clarke SL, Bowron A, Gonzalez IL. Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet Journal of Rare Diseases. 2013;8:23. https://doi.org/10.1186/1750-1172-8-23.
Miller PC, Ren M, Schlame M, Toth MJ, Phoon CKL. A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population. The Journal of pediatrics. 2020;217:139-144. https://doi.org/10.1016/j.jpeds.2019.09.074.
Yen TY, Hwu WL, Chien YH, Wu MH, Lin MT, Tsao LY, Hsieh WS, Lee NC. Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. European journal of pediatrics. 2008;167(8):941-944. https://doi.org/10.1007/s00431-007-0592-y.
Folsi V, Miglietti N, Lombardi A, Mascolo A, Porto R, Meazza C. Cardiomyopathy in a male patient with neutropenia and growth delay. Italian journal of pediatrics. 2014;40:4. https://doi.org/10.1186/1824-7288-40-4.
Bittel AJ, Bohnert KL, Reeds DN, Peterson LR, de las Fuentes L, Corti M, Taylor CL, Byrne BJ, Cade WT. Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study. JIMD reports. 2018;41:63-72. https://doi.org/10.1007/8904_2018_102.
Reynolds S. Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. Journal of multidisciplinary healthcare. 2015;8:345-358. https://doi.org/10.2147/JMDH.S54802.
Pang J, Bao Y, Mitchell-Silbaugh K, Veevers J, Fang X. Barth Syndrome Cardiomyopathy: An Update. Genes. 2022;13:656. https://doi.org/10.3390/genes13040656.
Rigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H, Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant MC, Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet journal of rare diseases. 2013;8:70. https://doi.org/10.1186/1750-1172-8-70.
Thompson WR, Manuel R, Abbruscato A, Carr J, Campbell J, Hornby B, Vaz FM, Vernon HJ. Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER. Genetics in medicine. 2024;26(7):101138. https://doi.org/10.1016/j.gim.2024.101138.
Muksinova MD, Osmolovskaya YF, Leontyeva IV, Galaeva MA, Stukalova OV, Beniashvili AG, Safiullina AA, Zhirov IV, Tereshchenko SN. [Barth syndrome in an adult patient: an overview of the problem and case report. A review]. Terapevticheskii arkhiv. 2024;96(8):812-819. https://doi.org/10.26442/00403660.2024.08.202815. https://www.elibrary.ru/lukxgg. (Russian.)
Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study. American journal of medical genetics. Part A. 2012;158A(11):2726-2732. https://doi.org/10.1002/ajmg.a.35609.
Kang SL, Forsey J, Dudley D, Steward CG, Tsai-Goodman B. Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. Pediatric cardiology. 2015;37(1):167-176. https://doi.org/10.1007/s00246-015-1260-z.
Taylor C, Rao ES, Pierre G, Chronopoulou E, Hornby B, Heyman A, Vernon HJ. Clinical presentation and natural history of Barth Syndrome: An overview. Journal of inherited metabolic disease. 2022;45(1):7-16. https://doi.org/10.1002/jimd.12422.
Yadavalli R, Nawaz S, Althwanay AM, AlEdani EM, Kaur H, Kasapoglu M, Hamid PF. The heart of celiac disease: understanding dilated cardiomyopathy, pathophysiology, and care-a systematic review. The Egyptian heart journal. 2024;76(1):107. https://doi.org/10.1186/s43044-024-00534-x.
Emilsson L, Andersson B, Elfström P, Green PHR, Ludvigsson JF. Risk of Idiopathic Dilated Cardiomyopathy in 29,000 Patients with Celiac Disease. Journal of the American Heart Association. 2012;1(3):e001594. https://doi.org/10.1161/JAHA.112.001594.
Milutinovic S, Jancic P, Adam A, Radovanovic M, Nordstrom CW, Ward M, Petrovic M, Jevtic D, Delibasic M, Kotseva M, Nikolajevic M, Dumic I. Cardiomyopathy in Celiac Disease: A Systematic Review. Journal of clinical medicine. 2024;13(4):1045. https://doi.org/10.3390/jcm13041045.
