Aortic Valve Stenosis and Cardiac Amyloidosis: An Underestimated Coexistence
Aortic Stenosis and Cardiac Amyloidosis
Coexistence of aortic valve stenosis (AS) and cardiac amyloidosis (CA) is frequent in the elderly as both conditions increase with age. Wild type transthyretin (TTR) amyloidosis is the most common type of amyloidosis in AS cohorts. Cardiac amyloidosis and AS share common clinical characteristics making diagnosis of dual pathology challenging. However, certain features should raise suspicion of CA presence in AS patients leading to specific imaging modalities to confirm diagnosis. Dual pathology (AS & CA) increase mortality risk and prompt diagnosis is crucial. Novel pharmacological agents targeted for TTR CA should be initiated to improve prognosis. The role of the Heart Team for decision-making in these cases regarding the optimal management of AS is crucial. Transcatheter aortic valve replacement may be the preferred procedure in these high-risk patients. Rhythmos2022;17(3): 53-57.
Coffey S, Cox B, Williams MJ. The prevalence, incidence, progression, and risks of aortic valve sclerosis: a systematic review and meta-analysis. J Am Coll Cardiol. 2014;63:2852-61.
Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Evolving landscape in the management of transthyretin amyloidosis. Ann Med. 2015;47:625-38.
Nitsche C, Scully PR, Patel KP, et al. Prevalence and Outcomes of Concomitant Aortic Stenosis and Cardiac Amyloidosis. Journal of the American College of Cardiology. 2021;77:128-139.
Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation. 2016;133:2404-2412.
Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. New England Journal of Medicine. 2018;379:1007-1016.
Ho JS-Y, Kor Q, Kong WKF, et al. Prevalence and outcomes of concomitant cardiac amyloidosis and aortic stenosis: A systematic review and meta-analysis. Hellenic Journal of Cardiology. 2022;64:67-76.
Nietlispach F, Webb JG, Ye J, et al. Pathology of Transcatheter Valve Therapy. JACC: Cardiovascular Interventions. 2012;5:582-590.
Galat A, Guellich A, Bodez D, et al. Aortic stenosis and transthyretin cardiac amyloidosis: the chicken or the egg? Eur Heart J. 2016;37:3525-3531.
Ricci F, Ceriello L, Khanji MY, et al. Prognostic Significance of Cardiac Amyloidosis in Patients With Aortic Stenosis: A Systematic Review and Meta-Analysis. JACC: Cardiovascular Imaging. 2021;14:293-295.
Gargiulo P, Perrone-Filardi P. Dangerous relationships: aortic stenosis and transthyretin cardiac amyloidosis. Eur Heart J. 2017;38:2888-2889.
Damy T, Judge DP, Kristen AV, Berthet K, Li H, Aarts J. Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis. J Cardiovasc Transl Res. 2015;8:117-27.
Pepys MB. Amyloidosis. Annu Rev Med. 2006;57:223-41.
Maurer MS, Bokhari S, Damy T, et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Heart Fail. 2019;12:e006075.
Gonzalez-Lopez E, Gallego-Delgado M, Guzzo-Merello G, et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J. 2015;36:2585-94.
Feng D, Syed IS, Martinez M, et al. Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis. Circulation. 2009;119:2490-7.
Scully PR, Patel KP, Treibel TA, et al. Prevalence and outcome of dual aortic stenosis and cardiac amyloid pathology in patients referred for transcatheter aortic valve implantation. Eur Heart J. 2020;41:2759-2767.
Weiss RM, Miller JD, Heistad DD. Fibrocalcific aortic valve disease: opportunity to understand disease mechanisms using mouse models. Circulation research. 2013;113:209-222.
Castano A, Narotsky DL, Hamid N, et al. Unveiling transthyretin cardiac amyloidosis and its predictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement. Eur Heart J. 2017;38:2879-2887.
Fosbøl EL, Rørth R, Leicht BP, et al. Association of Carpal Tunnel Syndrome With Amyloidosis, Heart Failure, and Adverse Cardiovascular Outcomes. J Am Coll Cardiol. 2019;74:15-23.
Yanagisawa A, Ueda M, Sueyoshi T, et al. Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol. 2015;28:201-7.
Béquignon E, Guellich A, Bartier S, et al. How your ears can tell what is hidden in your heart: wild-type transthyretin amyloidosis as potential cause of sensorineural hearing loss inelderly-AmyloDEAFNESS pilot study. Amyloid. 2017;24:96-100.
Cheng Z, Zhu K, Tian Z, Zhao D, Cui Q, Fang Q. The findings of electrocardiography in patients with cardiac amyloidosis. Ann Noninvasive Electrocardiol. 2013;18:157-62.
Fontana M, Banypersad SM, Treibel TA, et al. Native T1 mapping in transthyretin amyloidosis. JACC Cardiovasc Imaging. 2014;7:157-65.
Chacko L, Martone R, Bandera F, et al. Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis. Eur Heart J. 2020;41:1439-1447.
Cavalcante JL, Rijal S, Abdelkarim I, et al. Cardiac amyloidosis is prevalent in older patients with aortic stenosis and carries worse prognosis. J Cardiovasc Magn Reson. 2017;19:98.
Nitsche C, Aschauer S, Kammerlander AA, et al. Light-chain and transthyretin cardiac amyloidosis in severe aortic stenosis: prevalence, screening possibilities, and outcome. Eur J Heart Fail. 2020;22:1852-1862.
Treibel TA, Fontana M, Gilbertson JA, et al. Occult Transthyretin Cardiac Amyloid in Severe Calcific Aortic Stenosis. Circulation: Cardiovascular Imaging. 2016;9:e005066.
Bhuiyan T, Helmke S, Patel AR, et al. Pressure-volume relationships in patients with transthyretin (ATTR) cardiac amyloidosis secondary to V122I mutations and wild-type transthyretin: Transthyretin Cardiac Amyloid Study (TRACS). Circ Heart Fail. 2011;4:121-8.
Garcia-Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. European heart journal. 2021;42:1554-1568.
Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol. 2019;73:2872-2891.
Cheung CC, Roston TM, Andrade JG, Bennett MT, Davis MK. Arrhythmias in Cardiac Amyloidosis: Challenges in Risk Stratification and Treatment. Can J Cardiol. 2020;36:416-423.
McDonagh TA, Metra M. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure. 2021;42:3599-3726.
Java AP, Greason KL, Dispenzieri A, et al. Aortic valve replacement in patients with amyloidosis. J Thorac Cardiovasc Surg. 2018;156:98-103.
Fitzmaurice GJ, Wishart V, Graham AN. An unexpected mortality following cardiac surgery: a post-mortem diagnosis of cardiac amyloidosis. Gen Thorac Cardiovasc Surg. 2013;61:417-21.
Khan MZ, Brailovsky Y, Vishnevsky O, Baqi A, Patel K, Alvarez RJ. Clinical outcome of TAVR vs SAVR in patients with cardiac amyloidosis. Cardiovascular Revascularization Medicine. 2022.
Khawaja T, Jaswaney R, Arora S, et al. Transcatheter aortic valve replacement in patients with aortic stenosis and cardiac amyloidosis. International journal of cardiology Heart & vasculature. 2022;40:101008-101008.
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