Amiloidosis cardiaca, algo más común que lo pensamos. Revisión del estado del arte
Resumen
La amiloidosis cardiaca es una condición causada por el depósito extracelular de proteínas amiloide en el musculo cardiaco, la cual hasta hace pocos años era considerada como una entidad rara, pero el advenimiento de nuevos métodos diagnósticos más la sospecha clínica cada vez más elevada han demostrado que esta enfermedad es más común de lo que se sospechaba. Su diagnóstico y tratamiento depende de la historia clínica, estudios inmunohistoquímicos, de imagen y genéticos además identificación histopatológica de los depósitos de amiloide. La estratificación de riesgo e identificación del tipo de proteína amiloide circulante o depositada en los tejidos determinará el método de tratamiento apropiado para cada paciente y además se debe realizar cribaje genético a familiares de los pacientes que presenten las formas hereditarias de la enfermedad. La siguiente revisión pone en contexto de estado del arte actual de esta enfermedad.
Referencias
Ke PC, Zhou R, Serpell LC, et al. Half a century of amyloids: past, present and future. Chem Soc Rev 2020; 49:5473.
Muchtar E, Dispenzieri A, Magen H, et al. Systemic amyloidosis from A (AA) to T (ATTR): a review. J Intern Med 2021; 289:268.
Arosio P, Michaels TC, Linse S, et al. Kinetic analysis reveals the diversity of microscopic mechanisms through which molecular chaperones suppress amyloid formation. Nat Commun 2016; 7:10948.
Bellotti V, Nuvolone M, Giorgetti S, et al. The workings of the amyloid diseases. Ann Med 2007; 39:200.
Eisenberg D, Jucker M. The amyloid state of proteins in human diseases. Cell 2012; 148:1188.
Knowles TP, Vendruscolo M, Dobson CM. The amyloid state and its association with protein misfolding diseases. Nat Rev Mol Cell Biol 2014; 15:384.
Chiti F, Dobson CM. Protein Misfolding, Amyloid Formation, and Human Disease: A Summary of Progress Over the Last Decade. Annu Rev Biochem 2017; 86:27.
Bemporad F, Chiti F. Protein misfolded oligomers: experimental approaches, mechanism of formation, and structure-toxicity relationships. Chem Biol 2012; 19:315.
Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007; 36:411.
Mucchiano GI, Häggqvist B, Sletten K, Westermark P. Apolipoprotein A-1-derived amyloid in atherosclerotic plaques of the human aorta. J Pathol 2001; 193:270.
Yazaki M, Liepnieks JJ, Kincaid JC, Benson MD. Contribution of wild-type transthyretin to hereditary peripheral nerve amyloid. Muscle Nerve 2003; 28:438.
Benson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2020; 27:217.
Ravichandran S, Lachmann HJ, Wechalekar AD. Epidemiologic and Survival Trends in Amyloidosis, 1987-2019. N Engl J Med 2020; 382:1567.
Nilsson MR. Insulin amyloid at injection sites of patients with diabetes. Amyloid 2016; 23:139.
Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet 2016; 387:2641.
Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003; 349:583.
Kyle RA, Linos A, Beard CM, et al. Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood 1992; 79:1817.
Boldrini M, Cappelli F, Chacko L, et al. Multiparametric Echocardiography Scores for the Diagnosis of Cardiac Amyloidosis. JACC Cardiovasc Imaging 2020; 13:909.
Ruberg FL, Grogan M, Hanna M, et al. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol 2019; 73:2872.
Cuddy SAM, Dorbala S, Falk RH. Complexities and Pitfalls in Cardiac Amyloidosis. Circulation 2020; 142:409.
Gillmore JD, Damy T, Fontana M, et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J 2018; 39:2799.
Dispenzieri A, Gertz MA, Kyle RA, et al. Serum cardiac troponins and N-terminal pro-brain natriuretic peptide: a staging system for primary systemic amyloidosis. J Clin Oncol 2004; 22:3751.
Cyrille NB, Goldsmith J, Alvarez J, Maurer MS. Prevalence and prognostic significance of low QRS voltage among the three main types of cardiac amyloidosis. Am J Cardiol 2014; 114:1089.
Rapezzi C, Quarta CC, Obici L, et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 2013; 34:520.
Gagliardi C, Perfetto F, Lorenzini M, et al. Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure. Eur J Heart Fail 2018; 20:1417.
Suhr OB, Svendsen IH, Andersson R, et al. Hereditary transthyretin amyloidosis from a Scandinavian perspective. J Intern Med 2003; 254:225.
Sekijima Y, Uchiyama S, Tojo K, Sano K, Shimizu Y, Imaeda T, Hoshii Y, Kato H, Ikeda S. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol. 2011;42:1785–1791. doi: 10.1016/j.humpath.2011.03.004
Yanagisawa A, Ueda M, Sueyoshi T, Okada T, Fujimoto T, Ogi Y, Kitagawa K, Tasaki M, Misumi Y, Oshima T, Jono H, Obayashi K, Hirakawa K, Uchida H, Westermark P, Ando Y, Mizuta H. Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol. 2015;28:201–207. doi: 10.1038/modpathol.2014.102
Westermark P, Westermark GT, Suhr OB, Berg S. Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. Ups J Med Sci. 2014;119:223–228. doi: 10.3109/03009734.2014.895786
Rubin J, Alvarez J, Teruya S, Castano A, Lehman RA, Weidenbaum M, Geller JA, Helmke S, Maurer MS. Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier? Amyloid. 2017;24:226–230. doi: 10.1080/13506129.2017.1375908
Geller HI, Singh A, Alexander KM, Mirto TM, Falk RH. Association between ruptured distal biceps tendon and wild-type transthyretin cardiac amyloidosis. JAMA. 2017;318:962–963. doi: 10.1001/jama.2017.9236.
Castaño 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.
Longhi S, Quarta CC, Milandri A, et al. Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role. Amyloid 2015; 22:147.
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.
Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation 2016; 133:2404.
Westin O, Fosbøl EL, Maurer MS, Leicht BP, Hasbak P, Mylin AK, et al. Screening for Cardiac Amyloidosis 5 to 15 Years After Surgery for Bilateral Carpal Tunnel Syndrome. Journal of the American College of Cardiology. 2022 Sep;80(10):967–77.
Mussinelli R, Salinaro F, Alogna A, et al. Diagnostic and prognostic value of low QRS voltages in cardiac AL amyloidosis. Ann Noninvasive Electrocardiol 2013; 18:271.
Quarta CC, Zheng J, Hutt D, et al. 99mTc-DPD scintigraphy in immunoglobulin light chain (AL) cardiac amyloidosis. Eur Heart J Cardiovasc Imaging 2021; 22:1304.
Rapezzi C, Quarta CC, Riva L, Longhi S, Gallelli I, Lorenzini M, Ciliberti P, Biagini E, Salvi F, Branzi A. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010;7:398–408. doi: 10.1038/nrcardio.2010.67
Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation. 2005;112:2047–2060. doi: 10.1161/CIRCULATIONAHA.104.489187
Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation. 2017;135:1357–1377. doi:10.1161/CIRCULATIONAHA.116.024438
Martinez-Naharro A, Treibel TA, Abdel-Gadir A, et al. Magnetic Resonance in Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol 2017; 70:466.
Carvalho FP, Erthal F, Azevedo CF. The Role of Cardiac MR Imaging in the Assessment of Patients with Cardiac Amyloidosis. Magn Reson Imaging Clin N Am 2019; 27:453.
Brownrigg J, Lorenzini M, Lumley M, Elliott P. Diagnostic performance of imaging investigations in detecting and differentiating cardiac amyloidosis: a systematic review and meta-analysis. ESC Heart Fail 2019; 6:1041.
Dorbala S, Cuddy S, Falk RH. How to Image Cardiac Amyloidosis: A Practical Approach. JACC Cardiovasc Imaging 2020; 13:1368.
Maceira AM, Joshi J, Prasad SK, et al. Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation 2005; 111:186.
Fontana M, Pica S, Reant P, et al. Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis. Circulation 2015; 132:1570.
Zhao L, Tian Z, Fang Q. Diagnostic accuracy of cardiovascular magnetic resonance for patients with suspected cardiac amyloidosis: a systematic review and meta-analysis. BMC Cardiovasc Disord 2016; 16:129.
Messroghli DR, Moon JC, Ferreira VM, et al. Clinical recommendations for cardiovascular magnetic resonance mapping of T1, T2, T2* and extracellular volume: A consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI). J Cardiovasc Magn Reson 2017; 19:75.
Karamitsos TD, Piechnik SK, Banypersad SM, et al. Noncontrast T1 mapping for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging 2013; 6:488.
Fontana M, Banypersad SM, Treibel TA, et al. Native T1 mapping in transthyretin amyloidosis. JACC Cardiovasc Imaging 2014; 7:157.
Baggiano A, Boldrini M, Martinez-Naharro A, et al. Noncontrast Magnetic Resonance for the Diagnosis of Cardiac Amyloidosis. JACC Cardiovasc Imaging 2020; 13:69.
Banypersad SM, Sado DM, Flett AS, et al. Quantification of myocardial extracellular volume fraction in systemic AL amyloidosis: an equilibrium contrast cardiovascular magnetic resonance study. Circ Cardiovasc Imaging 2013; 6:34.
Fontana M, Banypersad S, Triebel T, et al. AL and ATTR cardiac amyloid are different: native T1 mapping and ECV detect different biology. J Cardiovasc Magn Reson 2014; 16:341.
Banypersad SM, Fontana M, Maestrini V, et al. T1 mapping and survival in systemic light-chain amyloidosis. Eur Heart J 2015; 36:244.
Kotecha T, Martinez-Naharro A, Treibel TA, et al. Myocardial Edema and Prognosis in Amyloidosis. J Am Coll Cardiol 2018; 71:2919.
Mints, Y. Y., Doros, G., Berk, J. L., Connors, L. H. & Ruberg, F. L. Features of atrial fibrillation in wild-type transthyretin cardiac amyloidosis: a systematic review and clinical experience. ESC Heart Fail 5, 772-779, doi:10.1002/ehf2.12308 (2018).
Bokhari, S., Shahzad, R., Castano, A. & Maurer, M. S. Nuclear imaging modalities for cardiac amyloidosis. Journal of Nuclear Cardiology 21, 175-184, doi:10.1007/s12350-0139803-2 (2014).
Bokhari, S. et al. (99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circulation. Cardiovascular imaging 6, 195-201, doi:10.1161/CIRCIMAGING.112.000132 (2013).
Castano, A. et al. Multicenter Study of Planar Technetium 99m Pyrophosphate Cardiac Imaging: Predicting Survival for Patients With ATTR Cardiac Amyloidosis. JAMA cardiology 1, 880-889, doi:10.1001/jamacardio.2016.2839 (2016).
Perugini, E. et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol 46, 1076-1084, doi:10.1016/j.jacc.2005.05.073 (2005).
Vandenberghe, R. et al. 18F-flutemetamol amyloid imaging in Alzheimer disease and mild cognitive impairment: a phase 2 trial. Ann Neurol 68, 319-329, doi:10.1002/ana.22068 (2010).
Bateman, R. J. et al. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 367, 795-804, doi:10.1056/NEJMoa1202753 (2012).
Dorbala, S. et al. Imaging cardiac amyloidosis: a pilot study using (1)(8)F-florbetapir positron emission tomography. Eur J Nucl Med Mol Imaging 41, 1652-1662, doi:10.1007/s00259-0142787-6 (2014).
Osborne, D. R., Acuff, S. N., Stuckey, A. & Wall, J. S. A Routine PET/CT Protocol with Streamlined Calculations for Assessing Cardiac Amyloidosis Using (18)F-Florbetapir. Front Cardiovasc Med 2, 23, doi:10.3389/fcvm.2015.00023 (2015).
Antoni, G. et al. In vivo visualization of amyloid deposits in the heart with 11C-PIB and PET. J Nucl Med 54, 213-220, doi:10.2967/jnumed.111.102053 (2013).
Lee, S. P. et al. 11C-Pittsburgh B PET imaging in cardiac amyloidosis. JACC Cardiovasc Imaging 8, 50-59 (2015).
Law, W. P., Wang, W. Y., Moore, P. T., Mollee, P. N. & Ng, A. C. Cardiac Amyloid Imaging with 18F-Florbetaben PET: A Pilot Study. J Nucl Med 57, 1733-1739, doi:10.2967/jnumed.115.169870 (2016).
Dietemann S, Nkoulou R. Amyloid PET imaging in cardiac amyloidosis: a pilot study using 18F-flutemetamol positron emission tomography. Annals of Nuclear Medicine. 2019 May 28;33(8):624–8.
Kircher M, Ihne S, Brumberg J, Morbach C, Knop S, Kortüm KM, et al. Detection of cardiac amyloidosis with 18F-Florbetaben-PET/CT in comparison to echocardiography, cardiac MRI and DPD-scintigraphy. European Journal of Nuclear Medicine and Molecular Imaging. 2019 Feb 23;46(7):1407–16.
Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, et al. Misdiagnosis of Hereditary Amyloidosis as AL (Primary) Amyloidosis. New England Journal of Medicine. 2002 Jun 6;346(23):1786–91.
Kyle RA, Gertz MA, Greipp PR, et al. A trial of three regimens for primary amyloidosis: colchicine alone, melphalan and prednisone, and melphalan, prednisone, and colchicine. N Engl J Med 1997; 336:1202.
Palladini G, Russo P, Bosoni T, et al. Identification of amyloidogenic light chains requires the combination of serum-free light chain assay with immunofixation of serum and urine. Clin Chem 2009; 55:499.
Quarta CC, Gonzalez-Lopez E, Gilbertson JA, Botcher N, Rowczenio D, Petrie A, Rezk T, Youngstein T, Mahmood S, Sachchithanantham S, Lachmann HJ, Fontana M, Whelan CJ, Wechalekar AD, Hawkins PN, Gillmore JD. Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis. Eur Heart J. 2017;38:1905–1908. doi: 10.1093/eurheartj/ehx047
Adams D, Suhr OB, Hund E, Obici L, Tournev I, Campistol JM, Slama MS, Hazenberg BP, Coelho T; European Network for TTR-FAP (ATTReuNET). First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29(suppl 1):S14–S26. doi: 10.1097/WCO.0000000000000289
Nativi-Nicolau J, Maurer MS. Amyloidosis cardiomyopathy: update in the diagnosis and treatment of the most common types. Curr Opin Cardiol 2018; 33:571.
Yancy, C.W. et al. (2016) “2016 ACC/AHA/HFSA focused update on new pharmacological therapy for heart failure: An update of the 2013 ACCF/AHA guideline for the management of heart failure,” Journal of the American College of Cardiology, 68(13), pp. 1476–1488. Available at: https://doi.org/10.1016/j.jacc.2016.05.011.
Fihn, S.D. et al. (2014) “2014 ACC/AHA/AATS/PCNA/SCAI/STS focused update of the guideline for the diagnosis and management of patients with stable ischemic heart disease,” Journal of the American College of Cardiology, 64(18), pp. 1929–1949. Available at: https://doi.org/10.1016/j.jacc.2014.07.017.
Eckel, R.H. et al. (2014) “2013 AHA/ACC guideline on Lifestyle Management to reduce cardiovascular risk,” Circulation, 129(25_suppl_2). Available at: https://doi.org/10.1161/01.cir.0000437740.48606.d1.
Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Evolving landscape in the management of transthyretin amyloidosis. Ann Med. 2015;47:625–638. doi: 10.3109/07853890.2015.1068949
Jacobson DR, Pastore R, Pool S, Malendowicz S, Kane I, Shivji A, Embury SH, Ballas SK, Buxbaum JN. Revised transthyretin Ile 122 allele frequency in African-Americans. Hum Genet. 1996;98:236–238. doi: 10.1007/s004390050199
Quarta CC, Buxbaum JN, Shah AM, Falk RH, Claggett B, Kitzman DW, Mosley TH, Butler KR, Boerwinkle E, Solomon SD. The amyloidogenic V122I transthyretin variant in elderly black Americans. N Engl J Med. 2015;372:21–29. doi: 10.1056/NEJMoa1404852
Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med. 1997;336:466 – 473. doi: 10.1056/NEJM199702133360703
Buxbaum J, Jacobson DR, Tagoe C, Alexander A, Kitzman DW, Greenberg B, Thaneemit-Chen S, Lavori P. Transthyretin V122I in African Americans with congestive heart failure. J Am Coll Cardiol. 2006;47:1724–1725. doi: 10.1016/j.jacc.2006.01.042
Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry. 1995;59:45–49. doi: 10.1136/jnnp.59.1.45
Damy T, Deux JF, Moutereau S, Guendouz S, Mohty D, Rappeneau S, Guellich A, Hittinger L, Loric S, Lefaucheur JP, Plante-Bordeneuve V. Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis. Amyloid. 2013;20:212–220. doi: 10.3109/13506129.2013.825240
Arvanitis M, Koch CM, Chan GG, Torres-Arancivia C, LaValley MP, Jacobson DR, Berk JL, Connors LH, Ruberg FL. Identification of transthyretin cardiac amyloidosis using serum retinol-binding protein 4 and a clinical prediction model. JAMA Cardiol. 2017;2:305–313. doi:10.1001/jamacardio.2016.5864
Kumar S, Dispenzieri A, Lacy MQ, et al. Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol 2012; 30:989.
Grogan M, Scott CG, Kyle RA, Zeldenrust SR, Gertz MA, Lin G, et al. Natural History of Wild Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System. Journal of the American College of Cardiology. 2016 Sep;68(10):1014–20.
Griffiths BE, Hughes P, Dowdle R, Stephens MR. Cardiac amyloidosis with asymmetrical septal hypertrophy and deterioration after nifedipine. Thorax [Internet]. 1982 Sep 1 [cited 2021 Feb 8];37(9):711–2. Available from: https://thorax.bmj.com/content/thoraxjnl/37/9/711.full.pdf
Muchtar E, Gertz MA, Kumar SK, Lin G, Boilson B, Clavell A, et al. Digoxin use in systemic light-chain (AL) amyloidosis: contra-indicated or cautious use? Amyloid. 2018 Mar 12;25(2):86–92.
Gertz MA, Skinner M, Connors LH, Falk RH, Cohen AS, Kyle RA. Selective binding of nifedipine to amylold fibrils. The American Journal of Cardiology. 1985 Jun;55(13):1646.
Pollak A, Falk RH. Left Ventricular Systolic Dysfunction Precipitated by Verapamil in Cardiac Amyloidosis. Chest. 1993 Aug;104(2):618–20.
Fischer, K. et al. (2021) “Cardiac resynchronisation therapy in patients with cardiac amyloidosis: A Multicentre retrospective study,” Archives of Cardiovascular Diseases Supplements,13(1), pp. 84–85. Available at https://doi.org/10.1016/j.acvdsp.2020.10.192.
Donnellan, E. et al. (2020) “Cardiac resynchronization therapy for transthyretin cardiac amyloidosis,” Journal of the American Heart Association, 9(14). Available at: https://doi.org/10.1161/jaha.120.017335.
Kleemann T. Cardiac contractility modulation. A new form of therapy for patients with heart failure and narrow QRS complex? Herz 2015;40:945–951.
Kuschyk J, Kloppe A, Schmidt-Schweda S, Bonnemeier H, Rousso B, Roger S. Cardiac contractility modulation: a technical guide for device implantation. Rev Cardiovasc Med 2017;18:1–13.
Ponikowski P, Voors AA, Anker SD, Bueno H, Cleland JG. 2016 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure: the Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC). Developed with the special contribution of the Heart Failure Association (HFA) of the ESC. Eur J Heart Fail 2016;18:891–975.
Muller D, Remppis A, Schauerte P, Schmidt-Schweda S, Burkhoff D, Rousso B, Gutterman D, Senges J, Hindricks G, Kuck KH. Clinical effects of long-term cardiac contractility modulation (CCM) in subjects with heart failure caused by left ventricular systolic dysfunction. Clin Res Cardiol 2017; 106:893–904.
Yu CM, Chan JY, Zhang Q, Yip GW, Lam YY, Chan A, Burkhoff D, Lee PW, Fung JW. Impact of cardiac contractility modulation on left ventricular global and regional function and remodeling. JACC Cardiovasc Imaging 2009; 2:1341–1349.
Stix G, Borggrefe M,Wolpert C, Hindricks G, Kottkamp H, Bocker D,Wichter T, Mika Y, Ben-Haim S, Burkhoff D, Wolzt M, Schmidinger H. Chronic electrical stimulation during the absolute refractory period of the myocardium improves severe heart failure. Eur Heart J 2004; 25:650–655.
Borggrefe MM, Lawo T, Butter C, Schmidinger H, Lunati M, Pieske B, Misier AR, Curnis A, Bocker D, Remppis A, Kautzner J, Stuhlinger M, Leclerq C, Taborsky M, Frigerio M, Parides M, Burkhoff D, Hindricks G. Randomized, double blind study of non-excitatory, cardiac contractility modulation electrical impulses for symptomatic heart failure. Eur Heart J 2008;29: 1019–1028.
Kadish A, Nademanee K, Volosin K, Krueger S, Neelagaru S, Raval N, Obel O, Weiner S, Wish M, Carson P, Ellenbogen K, Bourge R, Parides M, Chiacchierini RP, Goldsmith R, Goldstein S, Mika Y, Burkhoff D, Abraham WT. A randomized controlled trial evaluating the safety and efficacy of cardiac contractility modulation in advancedheart failure. Am Heart J 2011; 161:329–337.e1-2.
Dubrey SW, Cha K, Anderson J, et al. The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. QJM 1998; 91:141.
Dubrey S, Simms RW, Skinner M, Falk RH. Recurrence of primary (AL) amyloidosis in a transplanted heart with four-year survival. Am J Cardiol 1995; 76:739.
Hosenpud JD, DeMarco T, Frazier OH, et al. Progression of systemic disease and reduced long-term survival in patients with cardiac amyloidosis undergoing heart transplantation. Follow-up results of a multicenter survey. Circulation 1991; 84:III338.
Kpodonu J, Massad MG, Caines A, Geha AS. Outcome of heart transplantation in patients with amyloid cardiomyopathy. J Heart Lung Transplant 2005; 24:1763.
Dubrey SW, Burke MM, Hawkins PN, Banner NR. Cardiac transplantation for amyloid heart disease: the United Kingdom experience. J Heart Lung Transplant 2004; 23:1142.
Pelosi F Jr, Capehart J, Roberts WC. Effectiveness of cardiac transplantation for primary (AL) cardiac amyloidosis. Am J Cardiol 1997; 79:532.
Maurer MS, Raina A, Hesdorffer C, et al. Cardiac transplantation using extended-donor criteria organs for systemic amyloidosis complicated by heart failure. Transplantation 2007; 83:539.
Davis MK, Kale P, Liedtke M, et al. Outcomes after heart transplantation for amyloid cardiomyopathy in the modern era. Am J Transplant 2015; 15:650.
Fuchs U, Zittermann A, Suhr O, et al. Heart transplantation in a 68-year-old patient with senile systemic amyloidosis. Am J Transplant 2005; 5:1159.
Careddu L, Zanfi C, Pantaleo A, et al. Combined heart-liver transplantation: a single-center experience. Transpl Int 2015; 28:828.
Thenappan T, Fedson S, Rich J, et al. Isolated heart transplantation for familial transthyretin (TTR) V122I cardiac amyloidosis. Amyloid 2014; 21:120.
Frazier OH, Cohn WE. Continuous-flow total heart replacement device implanted in a 55-year-old man with end-stage heart failure and severe amyloidosis. Tex Heart Inst J 2012; 39:542.
Michelis, K.C. et al. (2020) “Durable mechanical circulatory support in patients with amyloid cardiomyopathy,” Circulation: Heart Failure, 13(12). Available at: https://doi.org/10.1161/circheartfailure.120.007931.
Tan NY, Mohsin Y, Hodge DO, et al. Catheter Ablation for Atrial Arrhythmias in Patients With Cardiac Amyloidosis. J Cardiovasc Electrophysiol 2016; 27:1167.
Martinez-Naharro A, Gonzalez-Lopez E, Corovic A, et al. High Prevalence of Intracardiac Thrombi in Cardiac Amyloidosis. J Am Coll Cardiol 2019; 73:1733.
Feng D, Edwards WD, Oh JK, et al. Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation 2007; 116:2420.
Feng D, Syed IS, Martinez M, et al. Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis. Circulation 2009; 119:2490.
Givertz MM, Stevenson LW, Costanzo MR, et al. Pulmonary artery pressure-guided management of patients with heart failure and reduced ejection frac- tion. J Am Coll Cardiol. 2017;70:1875–1886.
Lindenfeld J, Zile MR, Desai AS, et al. Haemody- namic-guided management of heart failure (GUIDE- HF): a randomised controlled trial. Lancet. 2021;398: 991–1001.
12. Galinier M, Roubille F, Berdague P, et al. Tele- monitoring versus standard care in heart failure: a randomised multicentre trial. Eur J Heart Fail. 2020;22:985–994.
13. Böhm M, Drexler H, Oswald H, et al. Fluid status telemedicine alerts for heart failure: a randomized controlled trial. Eur Heart J. 2016;37:3154–3363.
Donnellan E, Wazni OM, Saliba WI, et al. Prevalence, incidence, and impact on mortality of conduction system disease in transthyretin cardiac amyloidosis. Am J Cardiol. 2020;128:140–146.
Isath A, Correa A, Siroky GP, et al. Trends, burden, and impact of arrhythmia on cardiac amyloid patients: a 16-year nationwide study from 1999 to 2014. J Arrhythmia. 2020;36:727-734.
Algalarrondo V, Dinanian S, Juin C, et al. Prophylactic pacemaker implantation in familial amyloid polyneuropathy. Heart Rhythm. 2012;9:1069–1075.
González-López 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: 2585–2594.
Hashimura H, Ishibashi-Ueda H, Yonemoto Y, et al. Late gadolinium enhancement in cardiac amyloidosis: attributable both to interstitial amyloid deposition and subendocardial fibrosis caused by ischemia. Heart Vessels. 2016;31:990–995.
Sayed RH, Rogers D, Khan F, et al. A study of implanted cardiac rhythm recorders in advanced cardiac AL amyloidosis. Eur Heart J. 2015;36:1098–1105.
Kristen AV, Dengler TJ, Hegenbart U, et al. Prophylactic implantation of cardioverter-defibrillator in patients with severe cardiac amyloidosis and high risk for sudden cardiac death. Heart Rhythm 2008; 5:235.
Kastritis E, Palladini G, Minnema MC, Wechalekar AD, Jaccard A, Lee HC, Sanchorawala V, Gibbs S, Mollee P, Venner CP, et al; ANDROMEDA Trial Investigators. Daratumumab-based treatment for immunoglobulin light-chain amyloidosis. N Engl J Med. 2021;385:46–58. doi: 10.1056/NEJMoa2028631
Ward JE, Ren R, Toraldo G, Soohoo P, Guan J, O’Hara C, Jasuja R, Trinkaus-Randall V, Liao R, Connors LH, et al. Doxycycline reduces fibril formation in a transgenic mouse model of AL amyloidosis. Blood. 2011;118:6610–6617. doi: 10.1182/blood-2011-04-351643
Wechalekar AD, Whelan C. Encouraging impact of doxycycline on early mortality in cardiac light chain (AL) amyloidosis. Blood Cancer J. 2017;7:e546. doi: 10.1038/bcj.2017.26
Shen K, Fu W, Wu Y, Dong Y, Huang Z, Wei Y, Li C, Sun C, Chen Y, Miao H, et al. Doxycycline combined with bortezomib-cyclophosphamide-dexamethasone chemotherapy for newly diagnosed cardiac light-chain amyloidosis: a multicenter randomized controlled trial. Circulation. 2022;145:8–17. doi: 10.1161/CIRCULATIONAHA.121.057538
Gertz MA, Landau H, Comenzo RL, Seldin D, Weiss B, Zonder J, Merlini G, Schönland S, Walling J, Kinney GG, et al. First-in-human phase I/II study of NEOD001 in patients with light chain amyloidosis and persistent organ dysfunction. J Clin Oncol. 2016;34:1097–1103. doi:10.1200/JCO.2015.63.6530
Edwards CV, Bhutani D, Mapara M, Radhakrishnan J, Shames S, Maurer MS, Leng S, Wall JS, Solomon A, Eisenberger A, et al. One year follow up analysis of the phase 1a/b study of chimeric fibril-reactive monoclonal antibody 11-1F4 in patients with AL amyloidosis. Amyloid. 2019;26 (suppl 1):115–116. doi: 10.1080/13506129.2019.1584892
Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, et al; ATTR-ACT Study Investigators. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy.N Engl J Med. 2018; 379:1007–1016. doi: 10.1056/NEJMoa1805689
Kazi, D.S. et al. (2020) “Cost-effectiveness of tafamidis therapy for transthyretin amyloid cardiomyopathy,” Circulation, 141(15), pp. 1214–1224. Available at: https://doi.org/10.1161/circulationaha.119.045093.
Rosenblum H, Castano A, Alvarez J, Goldsmith J, Helmke S, Maurer MS. TTR (transthyretin) stabilizers are associated with improved survival in patients with TTR cardiac amyloidosis. Circ Heart Fail. 2018; 11:e004769. doi: 10.1161/CIRCHEARTFAILURE.117.004769
Ikram A, Donnelly JP, Sperry BW, Samaras C, Valent J, Hanna M. Diflunisal tolerability in transthyretin cardiac amyloidosis: a single center’s experience. Amyloid. 2018; 25:197–202. doi: 10.1080/13506129.2018.1519507
Judge DP, Heitner SB, Falk RH, Maurer MS, Shah SJ, Witteles RM, Grogan M, Selby VN, Jacoby D, Hanna M, et al. Transthyretin stabilization by AG10 in symptomatic transthyretin amyloid cardiomyopathy. J Am Coll Cardiol. 2019; 74:285–295. doi: 10.1016/j.jacc.2019.03.012
Judge DP. Long-term safety and efficacy of AG10 in ATTR-CM: phase 2 open label extension. Circulation. 2019; 140:e966–e967. Abstract 20864.
Minamisawa M, Claggett B, Adams D, Kristen AV, Merlini G, Slama MS, Dispenzieri A, Shah AM, Falk RH, Karsten V, et al. Association of patisiran, an RNA interference therapeutic, with regional left ventricular myocardial strain in hereditary transthyretin amyloidosis: the APOLLO study. JAMA Cardiol. 2019; 4:466–472. doi: 10.1001/jamacardio.2019.0849
Solomon SD, Adams D, Kristen A, Grogan M, González-Duarte A, Maurer MS, Merlini G, Damy T, Slama MS, Brannagan TH, et al. Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis. Circulation. 2019; 139:431–443. doi: 10.1161/CIRCULATIONAHA.118.035831
Benson MD, Dasgupta NR, Rissing SM, Smith J, Feigenbaum H. Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy. Amyloid. 2017; 24:219–225. doi: 10.1080/13506129.2017.1374946
Ionis Pharmaceuticals, Inc. A Phase 3 Global, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ION-682884 in Patients With Transthyretin-Mediated Amyloid Cardiomyopathy (ATTR CM) [Internet]. clinicaltrials.gov. 2023 [cited 2023 Apr 11]. Available from: https://clinicaltrials.gov/ct2/show/NCT04136171
Obici L, Cortese A, Lozza A, Lucchetti J, Gobbi M, Palladini G, Perlini S, Saraiva MJ, Merlini G. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid. 2012; 19(suppl 1):34–36. doi: 10.3109/13506129.2012.678508
Wixner J, Pilebro B, Lundgren HE, Olsson M, Anan I. Effect of doxycycline and ursodeoxycholic acid on transthyretin amyloidosis. Amyloid. 2017; 24 (suppl 1): 78–79. doi: 10.1080/13506129. 2016.1269739
Kristen AV, Lehrke S, Buss S, Mereles D, Steen H, Ehlermann P, Hardt S, Giannitsis E, Schreiner R, Haberkorn U, et al. Green tea halts progression of cardiac transthyretin amyloidosis: an observational report. Clin Res Cardiol. 2012; 101:805–813. doi: 10.1007/s00392-012-0463-z
Richards DB, Cookson LM, Berges AC, Barton SV, Lane T, Ritter JM, Fontana M, Moon JC, Pinzani M, Gillmore JD, et al. Therapeutic clearance of amyloid by antibodies to serum amyloid P component. N Engl JMed. 2015; 373:1106–1114. doi: 10.1056/NEJMoa1504942
Dubrey, S.W. et al. (1997) “Progression of ventricular wall thickening after liver transplantation for familial AMYLOIDOSIS1,” Transplantation, 64(1), pp. 74–80. Available at: https://doi.org/10.1097/00007890-199707150-00014.
Raichlin, E. et al. (2009) “Combined heart and liver transplantation: A single-center experience,” Transplantation, 88(2), pp. 219–225. Available at:https://doi.org/10.1097/tp.0b013e3181ac60db.
Sattianayagam, P.T. et al. (2011) “Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant,” European Heart Journal, 33(9), pp. 1120–1127. Available at: https://doi.org/10.1093/eurheartj/ehr383.
Enlaces refback
- No hay ningún enlace refback.
Esta obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.
