ФЕНОМЕН ИЛИ СИНДРОМ БРУГАДА?

В.В. Шишко, Д.Б. Гончарик, Л.И. Плащинская, В.Ч. Барсукевич, А.Р. Часнойть, А.В. Жих

Государственное учреждение «Республиканский научно-практический центр «Кардиология», Минск, Беларусь

Синдром Бругада (СБ) – наследственная сердечная каналопатия, характеризующаяся повышенным риском развития внезапной сердечной смерти (ВСС). Несмотря на редкую встречаемость синдрома СБ в популяции, своевременная диагностика и стратификация риска
является актуальной задачей на сегодняшний день. Наличие обмороков аритмического генеза в сочетании со спонтанным электрокардиографическим паттерном СБ 1-го типа является надежным маркером неблагоприятного прогноза, в то время как в группе с неаритмическими синкопальными состояниями не наблюдается повышенного риска жизнеугрожающих желудочковых тахиаритмий. Тем не менее этиологию синкопальных состояний трудно определить в 30% случаев, что является актуальной проблемой на сегодняшний день. Известно, что данные, полученные с помощью имплантируемых петлевых регистраторов, изменяли терапевтический подход у 20–36% пациентов с СБ, имеющих необъяснимые обмороки, что является важным аспектом стратификации риска ВСС у данной группы пациентов.
В данной статье представлен краткий обзор медицинской литературы и клинический случай диагностики синкопальных состояний у пациента с ВСС. Описаны современные подходы к диагностике, профилактике и лечению, включая катетерную аблацию и генную терапию. Дана клиническая характеристика течения заболевания у пациента, приведены данные его
лабораторного и инструментального исследования.

ключевые слова: синдром Бругада, синкопальные состояния, блокада правой ножки пучка Гиса, фенокопии Бругада, феномен Бругада, катетерная аблация, генная терапия синдрома Бругада.

для цитирования: В.В. Шишко, Д.Б. Гончарик, Л.И. Плащинская, В.Ч. Барсукевич, А.Р. Часнойть, А.В. Жих. Феномен или синдром Бругада? Неотложная кардиология и кардиоваскулярные риски, 2023, Т. 7, № 2, С. 1980–1990.

PHENOMENON OR BRUGADA SYNDROME?

V.V. Shyshko, D.B. Goncharik, L.I. Plashchinskaya, V.C. Barsukevich, A.R. Chasnoits, A.V. Zhykh

The Brugada syndrome (BrS) is an inherited disorder associated with increased risk of sudden cardiac death (SCD). Despite the rare occurrence of BrS, timely diagnosis and risk stratification are important tasks today.
The presence of syncope of arrhythmic origin in conjunction with a spontaneous ECG pattern of BrS type 1 is a reliable indicator of a poor prognosis.
Conversely, in the group with non-arrhythmic syncope, there is no increased
risk of life-threatening ventricular tachyarrhythmias. However, the etiology
of syncope is difficult to determine in 30% of cases. It is known that data obtained using implantable loop recorders can change therapy strategy in 20–36%
of patients with BrS with unexplained syncope, what is a factor in stratifying
the cardiac risk of sudden death in this group of patients.
The article provides a brief overview of the medical literature and illustrates instances of the diagnosis of syncope in a patient with BrS. Modern
approaches of diagnosis and treatment of BrS including catheter ablation
and gene therapy are discussed. The clinical characteristics of the disease and the data of laboratory and instrumental studies of presented case are given.

keywords: Brugada syndrome, syncope, Brugada phenocopies, Brugada phenomenon, catheter ablation and gene therapy in Brugada syndrome.

for references: . V.V. Shyshko, D.B. Goncharik, L.I. Plashchinskaya, V.C. Barsukevich, A.R. Chasnoits, A.V. Zhykh. Phenomenon or Brugada syndrome? Neotlozhnaya kardiologiya i kardiovaskulyarnye riski [Emergency cardiology and cardiovascular risks], 2023, vol. 7, no. 2, pp. 1980–1990.

Antzelevitch C., Brugada P., Borggrefe M., Brugada J., Brugada R., Corrado D., et al.
Brugada syndrome: report of the second consensus conference: endorsed by
the Heart Rhythm Society and the European Heart Rhythm Association. Circulation,
2005, vol. 111(5), pp. 659–670. doi: 10.1161/01.CIR.0000152479.54298.51.
2. Wilde A.A., Antzelevitch C., Borggrefe M., Brugada J., Brugada R., et al. Proposed
diagnostic criteria for the Brugada syndrome: consensus report. Circulation, 2002,
vol. 106(19), pp. 2514-2519. doi: 10.1161/01.cir.0000034169.45752.4a.
3. Brugada, P., Brugada, J. Right bundle branch block, persistent ST segment elevation
and sudden cardiac death: a distinct clinical and electrocardiographic syndrome.
A multicenter report. J Am Coll Cardiol, 1992, vol. 20(6), pp. 1391-1396. doi:
10.1016/0735-1097(92)90253-j.
4. Ghassen G., Haissaguerre M., Dina C., Kamakura T., Duchateau J., et al. Left Ventricular Abnormal Substrate in Brugada Syndrome. JACC Clin Electrophysiol, 2023,
vol. 9(10), pp. 2041-2051. doi: 10.1016/j.jacep.2023.05.039.
5. Prana Jagannatha G.N., Antara M.P.S, Kosasih A.M., de Liyis B.G., Toding Pratama L.N.,
Aji W.C. Future direction of substrate-based catheter ablation in Brugada syndrome
and other inherited primary arrhythmia syndromes: Systematic review and meta-analysis. J Arrhythmia, 2023. doi: 10.1002/joa3.12947.
6. Hanna E.B., Glancy D.L. ST-segment elevation: Differential diagnosis, caveats. Cleve
Clin J Med, 2015, vol. 82, pp. 373-384. doi: 10.3949/ccjm.82a.14026.
7. Madeira M., Caetano F., Providência R., Almeida I., Trigo J., Nascimento J., et al.
Fever-induced type 1 Brugada pattern. Rev Port Cardiol, 2015, vol. 34(4), pp. 287.
doi: 10.1016/j.repc.2014.10.002.
8. Mizusawa Y., Wilde A.A.M. Brugada syndrome. Circ Arrhythm Electrophysiol, 2012,
vol. 5(3), pp. 606-616. doi: 10.1161/CIRCEP.111.964577.
9. Antzelevitch C., Brugada P., Borggrefe M., Brugada J., Brugada R., Corrado D., Gussak I.,
LeMarec H., Nademanee K., Riera A.R.P., et al. Brugada syndrome: Report
of the second consensus conference: endorsed by the Heart Rhythm Society
and the European Heart Rhythm Association. Circulation, 2005, vol. 111(5),
pp. 659-670. doi: 10.1161/01.CIR.0000152479.54298.51.
10. Alings M., Wilde A. “Brugada” syndrome. clinical data and suggested pathophysiological mechanism. Circulation, 1999, vol. 99(5), pp. 666-673. doi: 10.1161/01.CIR.99.5.666.
11. Matusik P.T., Rydlewska A., Pudło J., Podolec J., Lelakowski J., Podolec P. Brugada
syndrome: New concepts and algorithms in management (RCD code: V 1A.1). J Rare
Cardiovasc Dis, 2018, vol. 3, pp. 151-160. doi: 10.20418/jrcd.vol3no5.298.
12. Rattanawong P., Kewcharoen J., Techorueangwiwat C., Kanitsoraphan C., Mekritthikrai R., Prasitlumkum N., Puttapiban P., Mekraksakit P., Vutthikraivit W., Sorajja D.
Wide QRS complex and the risk of major arrhythmic events in Brugada syndrome
patients: A systematic review and meta-analysis. J Arrhythmia, 2019, vol. 36,
pp. 143-152. doi: 10.1002/joa3.12290.
13. Wu W., Tian L., Ke J., Sun Y., Wu R., Zhu J., Ke Q. Risk factors for cardiac events
in patients with Brugada syndrome: A PRISMA-compliant meta-analysis and systematic review. Medicine, 2016, vol. 95, pp. e4214. doi: 10.1097/MD.0000000000004214.
14. Veerman C.C., Wilde A.A.M., Lodder E.M. The cardiac sodium channel gene SCN5A
and its gene product NaV1.5: Role in physiology and pathophysiology. Gene, 2015,
vol. 573, pp. 177-187.
15. Kapplinger J.D., Tester D.J., Alders M., Benito B., Berthet M., Brugada J., et al.
An international compendium of mutations in the SCN5A- encoded cardiac sodium
channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm,
2010, vol. 7(1), pp. 33-46.
16. Le Scouarnec S., Karakachoff M., Gourraud J.B. et al. Testing the burden of rare
variation in arrhythmiasusceptibility genes provides new insights into molecular
diagnosis for Brugada syndrome. Hum Mol Genet, 2015, vol. 24(10), pp. 2757-2763.
doi: 10.1093/hmg/ddv036.
17. Bokeriya L.A. Sindrom Brugada: klinicheskie rekomendaczii [Brugada syndrome:
clinical guidelines]. Moskva, 2020. 70 s. (in Russian).
18. Al-Khatib S.M., Stevenson W.G., Ackerman M.J., Bryant W.J., Callans D.J., Curtis A.B.,
2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Executive summary: A Report
of the American College of Cardiology/American Heart Association Task Force
on Clinical Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol, 2018,
vol. 72(14), pp. 1677-1749. doi: 10.1016/j.jacc.2017.10.053.
19. Arce M., Riera A., Femen a F., Baranchuk A. Brugada electrocardiographic phenocopy
in a patient with chronic Chagasic cardiomyopathy. Cardiol J, 2010, vol. 17(5),
pp. 525-527.
20. Anselm D., Genaro N., Baranchuk A. Possible Brugada phenocopy induced by hypokalemia in a patient with congenital hypokalemic periodic paralysis. Arq Bras Cardiol,
2014, vol. 102(1), pp. 104.
21. Anselm D., Evans J., Baranchuk A. Brugada phenocopy: A new electrocardiogram
phenomenon. World J Cardiol, 2014, vol. 6(3), pp. 81-86.
22.Chevallier S., Forclaz A., Tenkorang J., et al: New electrocardiographic criteria
for discriminating between Brugada types 2 and 3 patterns and incomplete right
bundle branch block. J Am Coll Cardiol, 2011, vol. 58, pp. 2290.
23.Serra G., Baranchuk A., Bayes-De-Luna A., et al. New electrocardiographic criteria
to differentiate the type-2 Brugada pattern from electrocardiogram of healthy
athletes with r’-wave in leads V1/V2. Europace, 2014, vol. 16, pp. 1639. doi: 10.1093/
europace/euu025.
24. Serra G., Baranchuk A., Bayes-De-Luna A., et al. Base of the triangle to determine
a Brugada electrocardiogram pattern. Europace, 2015, vol. 17, pp. 505. doi: 10.1093/
europace/euu359.
25. Milman A., Andorin A., Gourraud J.B., et al. Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: data from the Survey
on Arrhythmic Events in BRUgada Syndrome (SABRUS). Heart Rhythm, 2018, vol. 15,
pp. 716. doi: 10.1016/j.hrthm.2018.01.014.
26.Priori S.G., Gasparini M., Napolitano C., et al. Risk stratification in Brugada syndrome:
results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE)
registry. J Am Coll Cardiol, 2012, vol. 59, pp. 37-45. doi: 10.1016/j.jacc.2011.08.064.
27. Sacher F., Arsac F., Wilton S.B., et al. Syncope in Brugada syndrome patients: prevalence, characteristics, and outcome. Heart Rhythm, 2012, vol. 9, pp. 1272-1279. doi:
10.1016/j.hrthm.2012.04.013.
28. Hernandez-Ojeda J., Arbelo E., Borras R., et al. Patients with Brugada syndrome
and implanted cardioverter-defibrillators: long-term follow-up. J Am Coll Cardiol,
2017, vol. 70, pp. 1991-2002. doi: 10.1016/j.jacc.2017.08.029.
29. Kubala M, Aïssou L, Traullé S, Gugenheim A-L, Hermida J-S. Use of implantable loop
recorders in patients with Brugada syndrome and suspected risk of ventricular
arrhythmia. Europace, 2012, vol. 14, pp. 898-902. doi: 10.1093/europace/eur319.
30. Sakhi R., Assaf A., Theuns D.A.M.J., Verhagen J.M.A., Szili-Torok T., Roos-Hesselink J.W.,
et al. Outcome of insertable cardiac monitors in symptomatic patients with Brugada syndrome at low risk of sudden cardiac death. Cardiology, 2020, vol. 145(7),
pp. 413-420. doi: 10.1159/000507075.
31. Scrocco C., Ben-Haim Y., Devine B., Tome-Esteban M., Papadakis M., Sharma S., et al.
Role of subcutaneous implantable loop recorder for the diagnosis of arrhythmias
in Brugada syndrome: a United Kingdom single-center experience. Heart Rhythm,
2022, vol. 19(1), pp. 70-78.
32. Sieira J., Ciconte G., Conte G., et al. Asymptomatic Brugada syndrome: clinical
characterization and long-term prognosis. Circ Arrhythm Electrophysiol, 2015,
vol. 8, pp. 1144.
33. Sieira J., Conte G., Ciconte G., et al. Clinical characterisation and long-term prognosis of women with Brugada syndrome. Heart, 2016, vol. 102, pp. 452. doi: 10.1136/
heartjnl-2015-308556.
34.Sieira J., Conte G., Ciconte G., et al. Prognostic value of programmed electrical stimulation in Brugada syndrome: 20 years experience. Circ Arrhythm Electrophysiol,
2015, vol. 8, pp. 777. doi: 10.1161/CIRCEP.114.002647.
35.Mizusawa Y., Morita H., Adler A., et al. Prognostic significance of fever-induced Brugada syndrome. Heart Rhythm, 2016, vol. 13, pp. 1515. doi: 10.1016/
j.hrthm.2016.03.044.
36. Zeppenfeld K., Tfelt-Hansen J., de Riva M., Winkel B.G., Behr E.R., et al., ESC Scientific
Document Group, 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task
force for the management of patients with ventricular arrhythmias and the prevention
of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed
by the Association for European Paediatric and Congenital Cardiology (AEPC). Eur
Heart J, 2022, vol. 43(40), pp. 3997-4126. doi: 10.1093/eurheartj/ehac262.
37. Sroubek J., Probst V., Mazzanti A., et al. Programmed ventricular stimulation for risk
stratification in the Brugada syndrome: a pooled analysis. Circulation, 2016, vol.
133(7), pp. 622. doi: 10.1161/CIRCULATIONAHA.115.017885.
38.Benito B., Sarkozy A., Mont L., et al. Gender differences in clinical manifestations
of Brugada syndrome. J Am Coll Cardiol, 2008, vol. 52, pp. 1567. doi: 10.1016/
j.jacc.2008.07.052.
39. Viswanathan P.C., Benson D.W., Balser J.R. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest, 2003, vol. 111(3),
pp. 341. doi: 10.1172/JCI16879.
40. Ishikawa T., Kimoto H., Mishima H., Yamagata K., Ogata S., Aizawa Y., et al. Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome. Eur Heart J, 2021, vol. 42(29), pp. 2854-2863.
doi: 10.1093/eurheartj/ehab254.
41. Brugada J., Pappone C., Berruezo A., et al. Brugada syndrome phenotype elimination
by epicardial substrate ablation. Circ Arrhythm Electrophysiol, 2015, vol. 8(6),
pp. 1373-1381. doi: 10.1161/CIRCEP.115.003220.
42. Huynh K. Gene therapy for Brugada syndrome. Nat Rev Cardiol, 2022, vol. 19(8),
pp. 504. doi: 10.1038/s41569-022-00744-3.
43. Antzelevitch C. Brugada syndrome. Pacing Clin Electrophysiol. 2006 Oct;29(10):1130-59.
doi: 10.1111/j.1540-8159.2006.00507.x. PMID: 17038146; PMCID: PMC1978482.
44. Antzelevitch, C., Yan, G.-X., Ackerman, M.J., Borggrefe, M., Corrado, D., Guo, J.,
Gussak, I., Hasdemir, C., Horie, M., Huikuri, H., Ma, C., Morita, H., Nam, G.-B., Sacher, F.,
Shimizu, W., Viskin, S. and Wilde, A.A.M. (2016), J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge. Journal
of Arrhythmia, 32: 315-339.https://doi.org/10.1016/j.joa.2016.07.002.
45.Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R. Present Status
of Brugada Syndrome: JACC State-of-the-Art Review. J Am Coll Cardiol. 2018 Aug
28;72(9):1046-1059. doi: 10.1016/j.jacc.2018.06.037. PMID: 30139433.

Полнотекстовая статья

Скачать статью

Формат файла: pdf (2.43 Мб)

→ Главная → 2023 том 7, №2