The problem of underdiagnosis of sudden cardiac death in young patients with high-risk syncope without structural heart disease

   Aim. To address the problem of underdiagnosis of sudden cardiac death based on the analysis and successful verification of the cause of syncope in young patients with high-risk syncope without structural heart disease after the first syncope.

   Methods. The study included 128 patients with syncope. Based on inclusion and exclusion criteria, 63 patients were included in the study, aged 18 to 44 years; the average age of the subjects was 25.98 ± 6.69 years. An analysis of the causes of syncope established after the patient's first visit regarding a syncope was performed, and these data were compared with the final clinical diagnosis obtained on the basis of electrophysiological and molecular genetic diagnostic methods. The frequency of recurrence of syncope and SCD episodes from the time of the first syncope was assessed.

   Results. The study found that only 20 patients (31.7 %) sought medical attention after their first syncopal episode. Only 11 patients (17.7 %) were correctly diagnosed with a cardiac cause after their first syncope. Fifty-two patients (82.3 %) were diagnosed with non-cardiogenic syncope or syncope of unknown etiology. Retrospectively, all 52 (82.5 %) patients experienced a recurrence of syncope within 1–2 years, of which 10 patients (15.9 %) had an episode of SCD with successful cardiopulmonary resuscitation. In 14 patients (22.6 %), a diagnosis of syncope against the background of cardiocerebral syndrome was established at the outpatient stage, in 12 (19.4 %) – vegetative-vascular dystonia, somatoform dysfunction of the autonomic nervous system, in 8 (12.9 %) a diagnosis of anxiety disorder with panic attacks, in 4 – obesity (6.5 %), 3 patients had epilepsy (4.8 %) with the prescription of antiepileptic drugs, 2 patients had migraine without aura (3.2 %), 2 had tension headache (3.2 %), 3 patients had a diagnosis of paroxysmal conditions without specification (4.8 %), 1 had osteochondrosis of the cervical spine (1.6 %) and 2 had closed craniocerebral injury (3.2 %). After using methods of molecular genetic analysis and functional diagnostics (including genome/exome sequencing, implantable cardiac monitor, intracardiac electrophysiological study), the following final diagnoses were made: 12 people were diagnosed with rare diseases – channelopathies, 16 people – sinus node arrest and Short's syndrome, 15 patients – atrioventricular block grade 3 and grade 2 Mobitz 2, 15 patients – ventricular tachycardia, 5 patients – Wolff – Parkinson – White syndrome.

   Conclusion. High-risk syncope in young patients without structural heart disease should be considered a potential predictor of life-threatening conditions. Early identification of the risk of recurrent syncope and sudden cardiac death, as well as timely verification of the cause of syncope, can prevent a fatal outcome.

1. Eckart R.E., Shry E.A., Burke A.P. et al. Sudden death in young adults: an autopsy-based series of a population undergoing active surveillance. // Journal of the American College of Cardiology. 2011; 58:1254–1261. doi: 10.1016/j.jacc.2011.01.049

2. Brignole M., Moya A., de Lange F.J. et al.; ESC scientific document group. 2018 ESC guidelines for the diagnosis and management of syncope // Eur. Heart J. 2018. Vol. 39, N 21. Р. 1883–1948. doi: 10.1093/eurheartj/ehy037.

3. Dariush Mozaffarian, Emelia J Benjamin, Alan S Go et al. AHA statistical update heart disease and stroke statistics – 2016 Update a report from the American Heart Association Circulation. // Journal of the American Heart Association. 2016; 133:e38–e360. doi: 10.1161/CIR.0000000000000350

4. Shen W.K., Sheldon R.S., Benditt D.G. et al. 2017 ACC/AHA/ HRS guideline for the evaluation and management of patients with syncope: a report of the American College of Cardiology / American Heart Association / Task Force on Clinical Practice Guidelines and the Heart Rhythm Society // Heart Rhythm. 2017. Vol. 14, N. 8. Р. e155–217. doi: 10.1016/j.hrthm.2017.03.004.

5. Al-Khatib S.M., Stevenson W.G., Ackerman M.J. et al. 2017 AHA/ACC/HRS guide-line for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death // Circulation. 2018. Vol. 138, N. 13. Р. e272–391. doi: 10.1161/CIR.0000000000000549.

6. Wang W., Orgeron G., Tichnell C. еt al. Impact of exercise restriction on arrhythmic risk among patients with arrhythmogenic right ventricular cardiomyopathy // J. Am. Heart Assoc. 2018. Vol. 7, N. 12. Р. e008843. doi: 10.1161/JAHA.118.008843.

7. Shilova M.A., Mamedov M.N. Sudden cardiac death in young people: risk factors, causes, morphological equivalents // Cardiology. 2015;7(55):78–83.

8. Maron B.J., Doerer J.J., Haas T.S., et al. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006 // Circulation. 2009; Volume 119, Number 8. 119(8):1085–1092. doi: 10.1161/CIRCULATIONAHA.108.804617

9. Gregoratos G., Abrams J., Epstein A.E., et al. ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices: Summary Article: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines). Circulation 2002;106:214561. doi: 10.1016/S0735-1097(02)02528-7.

10. Linchak R.M., Nedbaikin A.M., Semenov E.V., et al. Frequency and structure of sudden cardiac death in the working-age population of the Bryansk region. Data from the GERMINA registry. // Rational pharmacotherapy in cardiology. 2016;12(1):45–50.

11. Makarov L.M., Komolyatova V.N., Kiseleva I.I., Solokhin Yu.A. Prevalence of sudden cardiac death in young people in a large metropolis // Medical alphabet – 2014/3 – Cardiology No. 1 – pp. 35–40.

12. Bokeria L.A., Revishvili A.Sh., Neminushchiy N.M. Sudden cardiac death // M.: GEOTAR-Media, 2011. – 267 p.

13. M. Brignole, P. Alboni, D.G. Benditt et al.,“Guidelines on management (diagnosis and treatment) of syncope – update 2004. The task force on syncope, European Society of Cardiology,” European Heart Journal,vol.25, no.22, pp.2054–2072,2004. doi: 10.1016/j.eupc.2004.08.008.

14. E.S.Soteriades, J.C.Evans, M.G.Larsonetal.,“Incidenceand prognosis of syncope,” The New England Journal of Medicine, vol.347, no.12, pp.878885, 2002. doi: 10.1056/NEJMoa012407

15. M. Brignole, M. Disertori, C. Menozzi et al. Management of syncope referred urgently to general hospitals with and without syncope units. Europace, vol. 5, no. 3, pp. 293–298, 2003. doi: 10.1016/S1099-5129(03)00047-3.

16. Von Scheidt W., Bosch R., Klingenheben T. еt al. Commentary on the 2018 ESC Guidelines for the diagnosis and management of syncope // Kardiologe. 2019. Vol. 13, N. 3. Р. 131–137. doi: 10.1007/s12181-019-0317-2.

17. João de Sousa Bispo, Pedro Azevedo, Teresa Mota. EGSYS score for the prediction of cardiac etiology in syncope: Is it useful in an outpatient setting? // Rev Port Cardiol, 2020 May; 39(5):255–261. doi: 10.1016/j.repc.2019.09.009

18. Yunxi Li, Jianglin Liu, Minmin Wang. Predictive value of EGSYS score in the differential diagnosis of cardiac syncope and neurally mediated syncope in children // Front Cardiovascular Medicine, 2023 March 17:10:1091778. doi: 10.3389/fcvm.2023.1091778.

19. A. Moya, R. Sutton, F. Ammiratietal. Guidelines for the diagnosis and management of syncope (version 2009) // European HeartJournal, vol. 30, no.21, pp. 2631–2671, 2009. doi: 10.1093/eurheartj/ehp298.

20. Soteriades E., Evans J., Larson M. et al. Incidence and prognosis of syncope. The New England Journal of Medicine 2002; 347:878-885. doi: 10.1056/NEJMoa012407.

21. Ungar A., Del Rosso A., Giada F. et al. Early and late outcome of treated patients referred for syncope to emergency department: the EGSYS 2 follow up study // European Heart Journal. 2010;31:2021–2026. doi: 10.1093/eurheartj/ehq017.

22. Savage D., Corwin L., McGee D. et al. Epidemiologic features of isolated syncope: the Framingham Study. Stroke 1985;16:626-29.

23. Silverstein M., Singer D., Mulley A. et al. Patients with syncope admitted to medical intensive care units // JAMA 1982;248:1185–1189.