Takotsubo Syndrome and Its Genetic Relationship: Case Report and Narrative Literature Review



Abstract Views
347

Downloads
174

Citations

Share

##plugins.themes.bootstrap3.article.sidebar##

Submitted Aug 27, 2022
Published Oct 23, 2022
10.24018/clinicmed.2022.3.5.230

Abstract viewed = 347 times

Table of Contents

##plugins.themes.bootstrap3.article.main##

Introduction: Takotsubo Syndrome (TTS) is presented as a temporary loss of systolic function, it is usually associated with emotional or physical stress. However, its pathophysiology is not well defined. Thus, this article seeks the relationship between the genetic factor and the development of Takotsubo Syndrome. 

Methodology: The study is about a narrative review and two case reports on TTS. 

Results: TTS is related to the excess of catecholamines, and its genetic linkage is strongly considered due to recent studies where occasionally it has been noticed its hereditary connections, such as: increased cardiac sensitivity to catecholamines and cardiac vulnerability to adrenergic stressors, impaired regulation of norepinephrine release, syndrome fragile X, and CD36 deficiency. 

Discussion: There is still no conclusion of the leading factors to TTS. However, being female, being in the postmenopausal period, and exposed to stressful conditions are some of the risk factors that can develop the disease, and which are better accepted by the scientific community.

Conclusions: Although TTS is a disease of low prevalence, it is increasingly present in the routine of the cardiologist. The great difficulty lies in its diagnosis as it does not present a pathognomonic symptom and it is similar to other diseases, such as ACS. This causes it to pass absent-mindedly during the emergency primary investigation. Thus, there is a need to expand studies related to this disease and to investigate its genetic association.

Keywords: Cardiology, differential diagnosis, Takotsubo cardiomyopathy

References

  1. Cordeiro JVC, Lima LRS, Ferreira RRS. Síndrome de Takotsubo: um diagnóstico diferencial do infarto agudo do miocárdio. 17º Congresso de Iniciação Científica da FASB. 2019; 17(1): 1-3. Portuguese.
     Google Scholar
  2. Campos FAD, Ritt LEF, Costa JPSl, Cruz CM, Feitosa-Filho GS, Oliveira QB, et al. Fatores associados à recorrência na síndrome de takotsubo: uma revisão sistemática. Arq Bras Cardiol. 2020; 114(3): 477-83. Portuguese.
     Google Scholar
  3. Parodi G, Citro R, Bellandi B, Pace S, Rigo F, Marrani M, et al. Tako-tsubo cardiomyopathy and coronary artery disease: a possible association. Coron Artery Dis. 2013; 24(6): 527-33.
     Google Scholar
  4. Fernandes F, Montera MW. Síndrome de Takotsubo: uma doença recorrente?. Arq Bras Cardiol. 2020; 114(3): 484-5. Portuguese.
     Google Scholar
  5. Casasola AB, Varela MS, Salgado OMC, Rivera PC, Salas BR, Villalobos IJT. Síndrome de Takotsubo. Revista Medica de la Universidad de Costa Rica. 2020; 14(2): 69-80. Portuguese.
     Google Scholar
  6. Campos MTFS, Valente FMQ, Araújo RMA, Bressan J. Mourning and Takotsubo cardiomyopathy neuroendocrine implications and nutricional management. Rev Assoc Med Bras. 2018; 64(10): 952-9.
     Google Scholar
  7. Cordeiro JVC, Lima LRS, Ferreira RRS. Síndrome de Takotsubo: um diagnóstico diferencial do infarto agudo do miocárdio. 17º Congresso de Iniciação Científica da FASB. 2019; 17(1): 1-3. Portuguese.
     Google Scholar
  8. Noah MLN, Adzika GK, Mprah R, Adekunle AO, Adu-Amankwaah J, Sun H. Sex-Gender disparities in cardiovascular diseases: the effects of estrogen on eNOS, lipid profile, and NFATs during catecholamine stress. Cardiovascular Medicine. 2021; 8: 1-10.
     Google Scholar
  9. Bridgman PG, Finsterer J, Lacey C, Kimber B, Parkin PJ, Miller AL, Kennedy MA. CTG-repeat expansions in the DMPK gene do not cause takotsubo syndrome. Int J Cardiol. 2016; 203-107-8.
     Google Scholar
  10. Eitel I, Moeller C, Munz M, Stiermaier T, Meitinger T, Thiele H, et al. Genome-wide association study in takotsubo syndrome - preliminary results and future directions. Int J Cardiol. 2017; 236: 335-9.
     Google Scholar
  11. Pizzino G, Bitto A, Crea P, Khandheria B, Vriz O, Carerj S. Takotsubo syndrome and estrogen receptor genes partners in crime?. J Cardiol Med. 2017; 4-268-76.
     Google Scholar
  12. Lacey CJ, Doudney K, Bridgman PG, George PM, Mulder RT, Zarifeh JJ. Copy number variants implicate cardiac function development pathways in earthquake-induced stress cardiomyopathy. Sci Rep. 2018; 8(1): 7548.
     Google Scholar
  13. Ekenback C, Tornvall P, Spaak J. Takotsubo twins. BMJ Case Rep. 2019; 12(4): 1-4.
     Google Scholar
  14. Mattson E, Saliba-Gustafsson P, Ehrenborg E, Tornvall P. Lack of genetic susceptibility in takotsubo cardiomyopathy, a case-control study. BMC Med Genet. 2018; 19(1): 1-7.
     Google Scholar
  15. Wright PT, Bhogal NK, Diakonov I, Pannell LMK, Perera RK, Bork NI. Cardiomyocyte membrane struccture and cAMP compartmentation produce anatomical variation in B2AR-cAMP responsiveness in murine hearts. Cell Rep. 2018; 23(2): 459-69.
     Google Scholar
  16. Pan XY, Zhang ZW. MFGE8, ALB, APOB, APOE, SAA1, A2M, and C3 as Novel biomarkers for stress cardiomyopathy. Cardiovascular Therapeutics. 2020; 2020: 1-11.
     Google Scholar
  17. Limongelli G, Masarone D, Maddaloni V, Rubino M, Fratta F, Cirillo A, et al. Genetics of Takotsubo Syndrome. Heart Fail Clin. 2016; 12(4): 499-506.
     Google Scholar
  18. Khanra D, Shrivastava Y, Duggal B, Kapoor KK. Familial apical dilated cardiomyopathy in a young man: a novel phenotype of Takotsubo syndrome or a new entity altogheter?. BMG Case Rep. 2019; 12(7): e231302.
     Google Scholar
  19. Tarantino N, Santoro F, Di Biase L, Di Terlizzi V, Vitale E, Barone R, et al. Chromogranin-A serum levels in patients with takotsubo syndrome and ST elevation acute myocardial infarction. Int J Cardiol. 2020; 320: 12-7.
     Google Scholar
  20. Lacey CJ, Doudney K, Bridgman PG, George PM, Mulder RT, Zarifeh JJ. Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyophaty. Scientific Reports. 2018; 8(7548): 1-12.
     Google Scholar
  21. Madias J. Recurrence, lingering recovery course, mild variants, and "chronic" forms, of takotsubo syndrome. Int J Cardiol. 2016; 220: 70-1.
     Google Scholar
  22. Kolodzinska A, Czarzasta K, Szczepankiewicz B, Glowczynska R, Fojt A, Ilczuk T, et al. Toll-like receptor expression and apoptosis morphological patterns in female rat hearts with takotsubo syndrome induced by isoprenaline. Life Sci. 2018; 199: 112-21.
     Google Scholar
  23. Bridman PG, Finsterer J, Lacey C, Kimber B, Parkin PJ, Miller AL, et al. CTG-reapeat expansions in the DMPK gene do not cause Takotsubo Syndrome. Int J Cardiol. 2016; 203: 107-8.
     Google Scholar
  24. Hussain I, Muthusamy P, Riaz N. Stress Cardiomiopathy: a case of apical balloning syndrome followed bt Mid-ventricular balloning syndrome as recurrence. American Journal of Medical Case Reports. 2016; 4(2): 38-40.
     Google Scholar
  25. Maciel BA, Cidrão AA, Sousa ÍB, Ferreira JA, Messias Neto VP. Pseudoinfarto agudo do miocárdio devido à síndrome da disfunção ventricular apical transitória (síndrome de Takotsubo). Revista Brasileira de Terapia Intensiva. 2013; 25: 63-7. Portuguese.
     Google Scholar
  26. Sousa JMA, Knobel M, Buchelle G, Sousa JAM, Fisher CH, Born D, et al. Transient ventricular dysfunction (Takotsubo cardiomyopathy). Arq Bras Cardiol. 2005; 84(4): 1-3.
     Google Scholar
  27. Ghadri JR, Wittstein IS, Prasad A, Sharkey S, Dote K, Akashi, TJ et al. International expert consensus document on Takotsubo Syndrome (part I): clinical characteristicas, diagnostic criteria, and pathophysiology. European Heart Journal. 2018; 39: 2032-46.
     Google Scholar
  28. Lyon AR, Bossone E, Schneider B, Sechtem U, Citro R, Underwood SR, et al. Current state of knowledge on Takotsubo syndrome: a position statement from the task force on Takotsubo syndrome of the Heart Failure Association of the European Society of Cardiology. Eur J Heart Fail. 2016; 18 (1): 8-27.
     Google Scholar
  29. Campos MTFS, Valente FMQ, Araújo RMA, Bressan J. Mourning and Takotsubo cardiomyopathy neuroendocrine implications and nutricional management. Rev Assoc Med Bras. 2018; 64(10): 952-9.
     Google Scholar
  30. Prizanteli CC. Coração partido: o luto pela perda do cônjuge. M. S. Thesis, Pontifícia Universidade Católica de São Paulo, 2008. Portuguese.
     Google Scholar
  31. Fernandes F, Montera MW. Síndrome de Takotsubo: uma doença recorrente?. Arq Bras Cardiol. 2020; 114(3): 484-5. Portuguese.
     Google Scholar
  32. Cherian J, Angelis D, Filiberti A, Saperia G. Can takotsubo cardiomyopathy be familial?. Int J Cardiol. 2007; 121: 74–5.
     Google Scholar
  33. Kumar G, Holmes Júnior DR, Prasad A. “Familial” apical ballooning syndrome (Takotsubo cardiomyopathy). Int J Cardiol. 2010; 144: 444–5.
     Google Scholar
  34. Ikutomi M, Yamasaki M, Matsusita M, Watari Y, Arashi H, Endo G, et al. Takotsubo cardiomyopathy in siblings. Heart Vessels. 2014; 29: 119–22.
     Google Scholar
  35. Pison L, Vusser P, Mullens W. Apical ballooning in relatives. Heart Vessels. 2004; 90: 67.
     Google Scholar
  36. Caretta G, Robba D, Vizzardi E, Bonadei I, Raddino R, Metra M. Tako-tsubo cardiomyopathy in two sisters: a chance finding or familial predisposition?. Clin Res Cardiol. 2015; 104: 614–6.
     Google Scholar
  37. Naranjo-Restrepo S, Múnera-Echeverri AG, Gaviria-Aguilar MC, Gutiérrez-Prieto D, Vásquez-Trespalacios EM, Duque-Ramírez M. Características clínicas, demográficas y epidemiológicas de una cohorte de pacientes con síndrome de Takotsubo entre 2011 y 2016 en
     Google Scholar
  38. Medellín, Colombia. 2021; 34(1): 27-33.
     Google Scholar
  39. Namgung J. Electrocardiographic findings in takotsubo cardiomyopathy: ECG evolution and its difference from the ECG of acute coronary syndrome. Clinical Medicine Insughts: Cardiology. 2014; 8: 29-34.
     Google Scholar
  40. Oliveira AMP, Nascimento LS, Nunes PBM, Feil AC, Brum JC, Peixoto SL, et al. Síndrome de takotsubo e o uso do interTAK diagnostic score no diagnóstico diferencial com a síndrome coronariana aguda: relato de caso. Clinical & Biomedical Research. 2018; 38(4): 409-13. Portuguese.
     Google Scholar
  41. Caramelli B. A síndrome de Takotsubo existe como uma doença específica?. Arq Bras Cardiol. 2020; 115(2): 217-8. Portuguese.
     Google Scholar
  42. Rohde LEP, Montera MW, Bocchi EA, Clausell NO, Albuquerque DC, Rassi S, et al. Diretriz Brasileira de Insuficiência Cardíaca Crônica e Aguda. Arq Bras Cardiol. 2018; 111(3): 436-539. Portuguese.
     Google Scholar
  43. Casasola AB, Varela MS, Salgado OMC, Rivera PC, Salas BR, Villalobos IJT. Síndrome de Takotsubo. Revista Medica de la Universidad de Costa Rica. 2020; 14(2): 69-80. Portuguese.
     Google Scholar
  44. Cordeiro JVC, Lima LRS, Ferreira RRS. Síndrome de Takotsubo: um diagnóstico diferencial do infarto agudo do miocárdio. 17º Congresso de Iniciação Científica da FASB. 2019; 17(1): 1-3. Portuguese.
     Google Scholar
  45. Almeida Junior GLG, Mansur Filho J, Albuquerque DC, Xavier SS, Pontes A, Gouvêa EP. Registro multicêntrico de takotsubo (REMUTA) - aspectos clínicos, desfechos intra-hospitalares e mortalidade a longo prazo. Arq Bras Cardiol. 2020; 115(2): 207-16. Portuguese.
     Google Scholar
  46. Quesada MC, Castaño DM, Guerrero AN. Actualizatión de cardiomiopatia de Takotsubo. Revista Médica Sinergia. 2020; 5(4): e441. Portuguese.
     Google Scholar
  47. Tenuta Júnior M, Depieri JHF, Ventura MT. Cardiomiopatia de Takotsubo no pós-operatório de cirurgia abdominal: revisão de literatura e relato de caso. COORTE. 2020; 10: 41-50. Portuguese.
     Google Scholar
  48. Bagnasco MS, Núñes-Gil IJ. Psychological disorders in adults with inherited cardiomyopathies and Takotsubo syndrome. Medwave. 2016; 16(5): e6460.
     Google Scholar
  49. Casasola AB, Varela MS, Salgado OMC, Riveira PC, Salas BR, Villalobos IJT. Takotsubo syndrome. Revista Médica de la Universidad de Costa Rica. 2020; 14(2): 69-80.
     Google Scholar
  50. Carrasco SCY, Solís ERA, Fernandez JPS, Salguero PEE. Síndrome de Takotsubo: fisiopatologia, manifestaciones clínicas y diagnóstico. Journal of American Health. 2021; 4(1): 1-10. Portuguese.
     Google Scholar


Most read articles by the same author(s)