Progression of echocardiographic parameters and prognosis in transthyretin cardiac amyloidosis
Liza Chacko, Nina Karia, Lucia Venneri, Francesco Bandera, Beatrice Dal Passo, Lodovico Buonamici, Jonathan Lazari, Adam Ioannou, Aldostefano Porcari, Rishi Patel, Yousuf Razvi, James Brown, Daniel Knight, Ana Martinez-Naharro, Carol Whelan, Candida C Quarta, Charlotte Manisty, James Moon, Dorota Rowczenio, Janet A Gilbertson, Helen Lachmann, Ashutosh Wechelakar, Aviva Petrie, William E Moody, Richard P Steeds, Luciano Potena, Mattia Riefolo, Ornella Leone, Claudio Rapezzi, Philip N Hawkins, Julian D Gillmore, Marianna Fontana, Liza Chacko, Nina Karia, Lucia Venneri, Francesco Bandera, Beatrice Dal Passo, Lodovico Buonamici, Jonathan Lazari, Adam Ioannou, Aldostefano Porcari, Rishi Patel, Yousuf Razvi, James Brown, Daniel Knight, Ana Martinez-Naharro, Carol Whelan, Candida C Quarta, Charlotte Manisty, James Moon, Dorota Rowczenio, Janet A Gilbertson, Helen Lachmann, Ashutosh Wechelakar, Aviva Petrie, William E Moody, Richard P Steeds, Luciano Potena, Mattia Riefolo, Ornella Leone, Claudio Rapezzi, Philip N Hawkins, Julian D Gillmore, Marianna Fontana
Abstract
Aims: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed disease. Echocardiography is widely utilized, but studies to confirm the value of echocardiography for tracking changes over time are not available. We sought to describe (i) changes in multiple echocardiographic parameters; (ii) differences in rate of progression of three predominant genotypes; and (iii) the ability of changes in echocardiographic parameters to predict prognosis.
Methods and results: We prospectively studied 877 ATTR-CM patients attending our centre between 2000 and 2020. Serial echocardiography findings at baseline, 12 months and 24 months were compared with survival. Overall, 565 patients had wild-type ATTR-CM and 312 hereditary ATTR-CM (201 with V122I; 90 with T60A). There was progressive worsening of structural and functional parameters over time, patients with V122I ATTR-CM showing more rapid worsening of left and right ventricular structural and functional parameters compared to both wild-type and T60A ATTR-CM. Among a wide range of echocardiographic analyses, including deformation-based parameters, only worsening in the degree of mitral (MR) and tricuspid regurgitation (TR) at 12- and 24-month assessments was associated with worse prognosis (change at 12 months: MR, hazard ratio 1.43 [95% confidence interval 1.14-1.80], p = 0.002; TR, hazard ratio 1.38 [95% confidence interval 1.10-1.75], p = 0.006). Worsening in MR remained independently associated with poor prognosis after adjusting for known predictors.
Conclusion: In ATTR-CM, echocardiographic parameters progressively worsen over time. Patients with V122I ATTR-CM demonstrate the most rapid deterioration. Worsening of MR and TR were the only parameters associated with mortality, MR remaining independent after adjusting for known predictors.
Keywords: Cardiomyopathy; Echocardiography; Prognosis; Progression; Restrictive.
© 2022 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
Figures
References
- Emdin M, Aimo A, Rapezzi C, Fontana M, Perfetto F, Seferovic PM, et al. Treatment of cardiac transthyretin amyloidosis: an update. Eur Heart J. 2019;40:3699–706.
- Law S, Petrie A, Chacko L, Cohen OC, Ravichandran S, Gilbertson JA, Rowczenio D, Wechalekar AD, Martinez‐Naharro A, Lachmann HJ, Whelan CJ, Hutt DF, Hawkins PN, Fontana M, Gillmore JD. Change in N‐terminal pro‐B‐type natriuretic peptide at 1 year predicts mortality in wild‐type transthyretin amyloid cardiomyopathy. Heart. 2022;108:474–8.
- Knight DS, Zumbo G, Barcella W, Steeden JA, Muthurangu V, Martinez‐Naharro A, et al. Cardiac structural and functional consequences of amyloid deposition by cardiac magnetic resonance and echocardiography and their prognostic roles. JACC Cardiovasc Imaging. 2019;12:823–33.
- Ruberg FL, Maurer MS, Judge DP, Zeldenrust S, Skinner M, Kim AY, et al. Prospective evaluation of the morbidity and mortality of wild‐type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J. 2012;164:222–8.e1.
- Chacko L, Martone R, Bandera F, Lane T, Martinez‐Naharro A, Boldrini M, et al. Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis. Eur Heart J. 2020;41:1439–47.
- Rubin J, Steidley DE, Carlsson M, Ong ML, Maurer MS. Myocardial contraction fraction by M‐mode echocardiography is superior to ejection fraction in predicting mortality in transthyretin amyloidosis. J Card Fail. 2018;24:504–11.
- Tendler A, Helmke S, Teruya S, Alvarez J, Maurer MS. The myocardial contraction fraction is superior to ejection fraction in predicting survival in patients with AL cardiac amyloidosis. Amyloid. 2015;22:61–6.
- Boldrini M, Cappelli F, Chacko L, Restrepo‐Cordoba MA, Lopez‐Sainz A, Giannoni A, et al. Multiparametric echocardiography scores for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging. 2020;13:909–20.
- Benson MD, Waddington‐Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:22–31.
- Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington‐Cruz M, et al.; ATTR‐ACT Study Investigators. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379:1007‐16.
- Solomon SD, Adams D, Kristen A, Grogan M, Gonzalez‐Duarte A, Maurer MS, et al. Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin‐mediated amyloidosis. Circulation. 2019;139:431–43.
- Itzhaki Ben Zadok O, Eisen A, Shapira Y, Monakier D, Iakobishvili Z, Schwartzenberg S, et al. Natural history and disease progression of early cardiac amyloidosis evaluated by echocardiography. Am J Cardiol. 2020;133:126–33.
- Lohrmann G, Pipilas A, Mussinelli R, Gopal DM, Berk JL, Connors LH, et al. Stabilization of cardiac function with diflunisal in transthyretin (ATTR) cardiac amyloidosis. J Card Fail. 2020;26:753–9.
- Quarta CC, Solomon SD, Uraizee I, Kruger J, Longhi S, Ferlito M, et al. Left ventricular structure and function in transthyretin‐related versus light‐chain cardiac amyloidosis. Circulation. 2014;129:1840–9.
- Garcia‐Pavia P, Bengel F, Brito D, Damy T, Duca F, Dorbala S, Nativi‐Nicolau J, Obici L, Rapezzi C, Sekijima Y, Elliott PM. Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy. Eur J Heart Fail. 2021;23:895–905.
- Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133:2404–12.
- Zoghbi WA, Adams D, Bonow RO, Enriquez‐Sarano M, Foster E, Grayburn PA, et al. Recommendations for noninvasive evaluation of native valvular regurgitation: a report from the American Society of Echocardiography developed in collaboration with the Society for Cardiovascular Magnetic Resonance. J Am Soc Echocardiogr. 2017;30:303–71.
- Stone JR, Basso C, Baandrup UT, Bruneval P, Butany J, Gallagher PJ, et al. Recommendations for processing cardiovascular surgical pathology specimens: a consensus statement from the Standards and Definitions Committee of the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology. Cardiovasc Pathol. 2012;21:2–16.
- Gillmore JD, Damy T, Fontana M, Hutchinson M, Lachmann HJ, Martinez‐Naharro A, et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J. 2018;39:2799–806.
- Maurer MS, Mundayat R, Rapezzi C. Reply: Val122Ile mt‐ATTR has a worse survival than wt‐ATTR cardiac amyloidosis. J Am Coll Cardiol. 2017;69:758–9.
- Givens RC, Russo C, Green P, Maurer MS. Comparison of cardiac amyloidosis due to wild‐type and V122I transthyretin in older adults referred to an academic medical center. Aging Health. 2013;9:229–35.
- Treibel TA, Fontana M, Gilbertson JA, Castelletti S, White SK, Scully PR, Roberts N, Hutt DF, Rowczenio DM, Whelan CJ, Ashworth MA, Gillmore JD, Hawkins PN, Moon JC. Occult transthyretin cardiac amyloid in severe calcific aortic stenosis: prevalence and prognosis in patients undergoing surgical aortic valve replacement. Circ Cardiovasc Imaging. 2016;9:e005066.
- Galat A, Guellich A, Bodez D, Slama M, Dijos M, Zeitoun DM, et al. Aortic stenosis and transthyretin cardiac amyloidosis: the chicken or the egg? Eur Heart J. 2016;37:3525–31.
- Castano A, Narotsky DL, Hamid N, Khalique OK, Morgenstern R, DeLuca A, 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;38:2879–87.
- Salaun E, Casalta AC, Donal E, Bohbot Y, Galli E, Tribouilloy C, et al. Apical four‐chamber longitudinal left ventricular strain in patients with aortic stenosis and preserved left ventricular ejection fraction: analysis related with flow/gradient pattern and association with outcome. Eur Heart J Cardiovasc Imaging. 2018;19:868–78.
- Shiino K, Yamada A, Ischenko M, Khandheria BK, Hudaverdi M, Speranza V, et al. Intervendor consistency and reproducibility of left ventricular 2D global and regional strain with two different high‐end ultrasound systems. Eur Heart J Cardiovasc Imaging. 2017;18:707–16.
Source: PubMed