Pendekatan Klinis Pasien Transthyretin Cardiac Amyloidosis (ATTR-CA)
DOI:
https://doi.org/10.55175/cdk.v48i9.114Keywords:
Amiloidosis jantung, deposisi amiloid, kardiomiopati infiltratif, mutasi transthyretinAbstract
Transthyretin Cardiac Amyloidosis (ATTR-CA) adalah penumpukan fragmen protein transthyretin di jaringan interstisial miokardium akibat salah lipat protein, menyebabkan kardiomiopati restriktif dan infiltratif karena penebalan dan kekakuan dinding jantung. Transthyretin sebagian besar diproduksi di hati, berbentuk tetramer dan berfungsi sebagai protein pembawa tiroksin (T4) serta holoretinol binding protein (HRP). Saat ini, pemeriksaan diagnostik metode non-invasif telah dikembangkan meskipun biopsi endomiokardium masih menjadi gold standard diagnosis. Diagnosis akurat sedini mungkin sangat berpengaruh terhadap keberhasilan serta penurunan angka morbiditas dan mortalitas.
Transthyretin Cardiac Amyloidosis (ATTR-CA) is the accumulation of transthyretin protein fragment in myocardium interstitial tissue induced by misfolded protein, lead to thickening and stiffness cardiac muscles, causing restrictive and infiltrative cardiomyopathy. Transthyretin is produced mainly in the liver as tetramer and bonded both with thyroxine (T4) and holoretinol binding protein (HRP) as carrier protein. Diagnostic test with non-invasive methods have been developed recently although endomyocardial biopsy is still the gold standard. Early targeted diagnosis has huge impact for therapy management and decreasing patient’s morbidity and mortality.
Downloads
References
Hafeez AS, Bavry AA. Diagnosis of Transthyretin Amyloid Cardiomyopathy. Cardiol Ther [Internet]. 2020/04/07. 2020 Jun;9(1):85–95. Available from: https://pubmed.ncbi.nlm.nih.gov/32266575
Gertz MA, Benson MD, Dyck PJ, Grogan M, Coelho T, Cruz M, et al. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol. 2015;66(21):2451–66.
Cowgill JA, Wight JN. ATTR Cardiac Amyloidosis: Classification, Diagnosis, and Management. In: Encyclopedia of Cardiovascular Research and Medicine [Internet]. Elsevier Inc.; 2018. p. 242–56. Available from: http://dx.doi.org/10.1016/B978-0-12-809657-4.10983-4
Maurer MS, Hanna M, Grogan M, Dispenzieri A, Witteles R, Drachman B, et al. Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016;68(2):161–72.
Bart NK, Thomas L, Korczyk D, Atherton JJ, Stewart GJ, Fatkin D. Amyloid Cardiomyopathy. Hear Lung Circ [Internet]. 2020;29(4):575–83. Available from: https://doi.org/10.1016/j.hlc.2019.11.019
Martinez-Naharro A, Hawkins PN, Fontana M. Cardiac Amyloidosis. Clin Med (Northfield Il) [Internet]. 2018 Apr 1;18(2):30–5. Available from: https://pubmed.ncbi.nlm.nih.gov/29700090
Halatchev IG, Zheng J, Ou J. Wild-type Transthyretin Cardiac Amyloidosis (ATTRwt-CA), Previously Known as Senile Cardiac Amyloidosis: Clinical Presentation, Diagnosis, Management and Emerging Therapies. J Thorac Dis [Internet]. 2018 Mar;10(3):2034–45. Available from: https://pubmed.ncbi.nlm.nih.gov/29707360
Ton V-K, Mukherjee M, Judge DP. Transthyretin Cardiac Amyloidosis: Pathogenesis, Treatments, and Emerging Role in Heart Failure with Preserved Ejection Fraction.Clin Med Insights Cardiol [Internet]. 2015 Jan 5;8(Suppl 1):39–44. Available from: https://pubmed.ncbi.nlm.nih.gov/25628512
Roberts JR, Lan ML, Mank VMF. Transthyretin-Related Amyloidosis [Internet]. MedScape. 2020 [cited 2020 Dec 12]. Available from: https://emedicine.medscape.com/article/335301-overview
Ruberg FL, Berk JL. Transthyretin (TTR) Cardiac Amyloidosis. Natl Institutes Heal [Internet]. 2013;126(10):1286–1300. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3624763/pdf/nihms412728.pdf
Buxbaum JN, Tagoe C, Gallo G, Walker JR, Kurian S, Salomon DR. Why are Some Amyloidoses Systemic? Does Hepatic “Chaperoning at a Distance” Prevent Cardiac Deposition in a Transgenic Model of Human Senile Systemic (Transthyretin) Amyloidosis? FASEB J [Internet]. 2012/02/23. 2012 Jun;26(6):2283–93. Available from: https://pubmed.ncbi.nlm.nih.gov/22362898
Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol [Internet]. 2019 Jun 11;73(22):2872–91. Available from: https://pubmed.ncbi.nlm.nih.gov/31171094
P LP, David S. Wild-Type Transthyretin Amyloid Cardiomyopathy. Circulation [Internet]. 2016 Jan 19;133(3):245–7. Available from: https://doi.org/10.1161/CIRCULATIONAHA.115.020351
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC Hear Fail. 2019;7(8):709–16.
Griffin JM, Maurer MS. Transthyretin Cardiac Amyloidosis: A Treatable Form of Heart Failure with a Preserved Ejection Fraction. Trends Cardiovasc Med [Internet]. 2019;17(36):1050–738. Available from: https://doi.org/10.1016/j.tcm.2019.12.003
Sher T, Gertz MA. Amyloid Cardiomyopathy. In: Vasan RS, Sawyer DBBT-E of CR and M, editors. Encyclopedia of Cardiovascular Research and Medicine [Internet].Oxford: Elsevier; 2018. p. 66–79. Available from: http://www.sciencedirect.com/science/article/pii/B9780128096574110518
Kittleson MM, Maurer MS, Ambardekar A V, Bullock-Palmer RP, Chang PP, Eisen HJ, et al. Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association. Circulation. 2020 Jul;142(1):7–22.
Strouse C, Briasoulis A, Fonseca R, Jethava Y. Approach to A Patient with Cardiac Amyloidosis. J Geriatr Cardiol [Internet]. 2019 Jul;16(7):567–74. Available from: https://pubmed.ncbi.nlm.nih.gov/31447895
Siddiqi OK, Ruberg FL. Cardiac Amyloidosis: An Update on Pathophysiology, Diagnosis, and Treatment. Trends Cardiovasc Med [Internet]. 2017/07/13. 2018 Jan;28(1):10–21. Available from: https://pubmed.ncbi.nlm.nih.gov/28739313
Macedo AVS, Schwartzmann PV, de Gusmão BM, Melo MDT de, Coelho-Filho OR. Advances in the Treatment of Cardiac Amyloidosis. Curr Treat Options Oncol [Internet]. 2020 Apr 23;21(5):36. Available from: https://pubmed.ncbi.nlm.nih.gov/32328845
Yamamoto H, Yokochi T. Transthyretin Cardiac Amyloidosis: An Update on Diagnosis and Treatment. ESC Hear Fail [Internet]. 2019/09/25. 2019 Dec;6(6):1128–39. Available from: https://pubmed.ncbi.nlm.nih.gov/31553132
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Cermin Dunia Kedokteran
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
