Cardiac amyloidosis: pathogenesis, clinical context, diagnosis and management options

REFERENCES

• Rambaran RN, Serpell LC. Amyloid fibrils: abnormal protein assembly. Prion 2008; 2: 112–7.
   PubMed Web of Science ®Google Scholar
• Hassan W, Al-Sergani H, Mourad W, Tabbaa R. Amyloid heart disease. New frontiers and insights in pathophysiology, diagnosis, and management. Tex Heart Inst J 2005; 32: 178–84.
   PubMed Web of Science ®Google Scholar
• Abraham RS, Geyer SM, Price-Troska Tl, Allmer C, Kyle RA, Gertz MA, Fonseca R. Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). Blood 2003; 101: 3801–8.
   PubMed Web of Science ®Google Scholar
• Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation 2012; 126: 1286–300.
   PubMed Web of Science ®Google Scholar
• Ng B, Connors LH, Davidoff R, Skinner M, Falk RH. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch intern Med 2005; 165: 1425–9.
   PubMed Web of Science ®Google Scholar
• Ando Y, Coelho T, Berk Jl, Cruz Mw, Ericzon Bg, Ikeda S, Lewis Wd, Obici L, Planté-Bordeneuve V, Rapezzi C, Said G, Salvi F. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013; 8: 31.
   PubMed Web of Science ®Google Scholar
• Quarta CC, Kruger J, Falk Rh. Cardiac amyloidosis. Circulation 2012; 126: e178–82.
   Web of Science ®Google Scholar
• Chung CM, Connors LH, Benson MD, Walsh MT. Biophysical analysis of normal transthyretin: implications for fibril formation in senile systemic amyloidosis. Amyloid 2001; 8: 75–83.
   Web of Science ®Google Scholar
• Sawabe M, Hamamatsu A, Ito T, Arai T, Ishikawa K, Chida K, Izumiyama N, Honma N, Takubo K, Nakazato M. Early pathogenesis of cardiac amyloid deposition in senile systemic amyloidosis: close relationship between amyloid deposits and the basement membranes of myocardial cells. Virchows Arch 2003; 442: 252–7.
   Web of Science ®Google Scholar
• Banypersad SM, Moon JC, Whelan C, Hawkins PN, Wechalekar AD. Updates in cardiac amyloidosis: a review. J Am Heart Assoc 2012; 1: e000364.
   PubMed Web of Science ®Google Scholar
• Nam Mc, Nel K, Senior R, Greaves K. Abnormal myocardial blood flow reserve observed in cardiac amyloidosis. J Cardiovasc Ultrasound 2016; 24: 64–7.
   Google Scholar
• Chamarthi B, Dubrey SW, Cha K, Skinner M, Falk RH. Features and prognosis of exertional syncope in light-chain associated al cardiac amyloidosis. Am J Cardiol 1997; 80: 1242–5.
   PubMed Web of Science ®Google Scholar
• Mathew V, Olson LJ, Gertz MA, Hayes DL. Symptomatic conduction system disease in cardiac amyloidosis. Am J Cardiol 1997; 80: 1491–2.
   PubMed Web of Science ®Google Scholar
• Ridolfi R, Bulkley BH, Hutchins GM. The conduction system in cardiac amyloidosis. clinical and pathologic features of 23 patients. Am J Med 1977; 62: 677–86.
   PubMed Web of Science ®Google Scholar
• Navarro JF, Rivera M, Ortuño J. Cardiac tamponade as presentation of systemic amyloidosis. Int J Cardiol 1992; 36: 107–8.
   Web of Science ®Google Scholar
• Feng D, Edwards WD, Oh JK, Chandrasekaran K, Grogan M, Martinez MW, Syed IS, Hughes DA, Lust JA, Jaffe AS, Gertz MA, Klarich KW. Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation 2007; 116: 2420–6.
   PubMed Web of Science ®Google Scholar
• Kelly JJ Jr. Peripheral neuropathies associated with monoclonal proteins: a clinical review. Muscle Nerve 1985; 8: 138–50.
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, Ciliberti P, Pastorelli F, Biagini E, Coccolo F, Cooke RM, Bacchi-Reggiani L, Sangiorgi D, Ferlini A, Cavo M, Zamagni E, Fonte Ml, Palladini G, Salinaro F, Musca F, Obici L, Branzi A, Perlini S. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation 2009; 120: 1203–12.
   PubMed Web of Science ®Google Scholar
• Dubrey SW, Cha K, Skinner M, Lavalley M, Falk RH. Familial and primary (AL) cardiac amyloidosis: echocardiographically similar diseases with distinctly different clinical outcomes. Heart 1997; 78: 74–82.
   PubMed Web of Science ®Google Scholar
• Murtagh B, Hammill SC, Gertz MA, Kyle RA, Tajik AJ, Grogan M. Electrocardiographic findings in primary systemic amyloidosis and biopsy-proven cardiac involvement. Am J Cardiol 2005; 95: 535–7.
   PubMed Web of Science ®Google Scholar
• Klein AL, Hatle LK, Burstow DJ, Taliercio CP, Seward JB, Kyle RA, Bailey KR, Gertz MA, Tajik AJ. Comprehensive Doppler assessment of right ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol 1990; 15: 99–108.
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F, Biagini E, Lorenzini M, Grigioni F, Leone O, Cappelli F, Palladini G, Rimessi P, Ferlini A, Arpesella G, Pinna AD, Merlini G, Perlini S. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 2013; 34: 520–8.
   PubMed Web of Science ®Google Scholar
• Patel AR, Dubrey SW, Mendes LA, Skinner M, Cupples A, Falk RH, Davidoff R. Right ventricular dilation in primary amyloidosis: an independent predictor of survival. Am J Cardiol 1997; 80: 486–92.
   PubMed Web of Science ®Google Scholar
• Porciani MC, Lilli A, Perfetto F, Cappelli F, Massimiliano Rao C, Del Pace S, Ciaccheri M, Castelli G, Tarquini R, Romagnani L, Pastorini T, Padeletti L, Bergesio F. Tissue Doppler and strain imaging: a new tool for early detection of cardiac amyloidosis. Amyloid 2009; 16: 63–70.
   PubMed Web of Science ®Google Scholar
• Kuo PH, Kanal E, Abu-Alfa AK, Cowper SE. Gadolinium-based MR contrast agents and nephrogenic systemic fibrosis. Radiology 2007; 242: 647–9.
   PubMed Web of Science ®Google Scholar
• Takeda M, Amano Y, Tachi M, Tani H, Mizuno K, Kumita S. MRI differentiation of cardiomyopathy showing left ventricular hypertrophy and heart failure: differentiation between cardiac amyloidosis, hypertrophic cardiomyopathy, and hypertensive heart disease. Jpn J Radiol 2013; 31: 693–700.
   Web of Science ®Google Scholar
• Dungu JN, Valencia O, Pinney JH, Gibbs SD, Rowczenio D, Gilbertson JA, Lachmann HJ, Wechalekar A, Gillmore JD, Whelan CJ, Hawkins PN, Anderson LJ. CMR-based differentiation of AL and ATTR cardiac amyloidosis. JACC Cardiovasc Imaging 2014; 7: 133–42.
   PubMed Web of Science ®Google Scholar
• Fontana M, Banypersad SM, Treibel TA, Maestrini V, Sado DM, White SK, Pica S, Castelletti S, Piechnik SK, Robson MD, Gilbertson JA, Rowczenio D, Hutt DF, Lachmann HJ, Wechalekar AD, Whelan CJ, Gillmore JD, Hawkins PN, Moon JC. Native T1 mapping in transthyretin amyloidosis. JACC Cardiovasc Imaging 2014; 7: 157–65.
   PubMed Web of Science ®Google Scholar
• Banypersad SM, Fontana M, Maestrini V, Sado Dm, Captur G, Petrie A, Piechnik SK, Whelan CJ, Herrey AS, Gillmore JD, Lachmann HJ, Wechalekar AD, Hawkins PN, Moon JC. T1 mapping and survival in systemic light-chain amyloidosis. Eur Heart J 2015; 36: 244–51.
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Quarta CC, Guidalotti PL, Pettinato C, Fanti S, Leone O, Ferlini A, Longhi S, Lorenzini M, Reggiani LB, Gagliardi C, Gallo P, Villani C, Salvi F. Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging 2011; 4: 659–70.
   PubMed Web of Science ®Google Scholar
• Bokhari S, Castaño A, Pozniakoff T, Deslisle S, Latif F, Maurer MS. (99M)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging 2013; 6: 195–201.
   PubMed Web of Science ®Google Scholar
• Longhi S, Guidalotti PL, Quarta CC, Gagliardi C, Milandri A, Lorenzini M, Potena L, Leone O, Bartolomei I, Pastorelli F, Salvi F, Rapezzi C. Identification of TTR-related subclinical amyloidosis with 99mTc-DPD scintigraphy. JACC Cardiovasc Imaging 2014; 7: 531–2.
   Web of Science ®Google Scholar
• Glaudemans AW, van Rheenen RW, van den Berg MP, Noordzij W, Koole M, Blokzijl H, Dierckx RA, Slart RH, Hazenberg BP. Bone scintigraphy with (99m)technetium-hydroxymethylene diphosphonate allows early diagnosis of cardiac involvement in patients with transthyretin-derived systemic amyloidosis. Amyloid 2014; 21: 35–44.
   PubMed Web of Science ®Google Scholar
• Kristen AV, Scherer K, Buss S, aus dem Siepen F, Haufe S, Bauer R, Hinderhofer K, Giannitsis E, Hardt S, Haberkorn U, Katus Ha, Steen H. Noninvasive risk stratification of patients with transthyretin amyloidosis. JACC Cardiovasc Imaging 2014; 7: 502–10.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Anan I, Backman C, Karlsson A, Lindqvist P, Mörner S, Waldenström A. Do troponin and B-natriuretic peptide detect cardiomyopathy in transthyretin amyloidosis? J Intern Med 2008; 263: 294–301.
   PubMed Web of Science ®Google Scholar
• Lehrke S, Steen H, Kristen AV, Merten C, Lossnitzer D, Dengler TJ, Katus HA, Giannitsis E. Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis. Amyloid 2009; 16: 187–95.
   PubMed Web of Science ®Google Scholar
• 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: 212–20.
   PubMed Web of Science ®Google Scholar
• Arbustini E, Merlini G, Gavazzi A, Grasso M, Diegoli M, Fasani R, Bellotti V, Marinone G, Morbini P, Dal Bello B, et al. Cardiac immunocyte-derived (AL) amyloidosis: an endomyocardial biopsy study in 11 patients. Am Heart J 1995; 130: 528–36.
   PubMed Web of Science ®Google Scholar
• Gilbertson JA, Theis JD, Vrana JA, Lachmann H, Wechalekar A, Whelan C, Hawkins PN, Dogan A, Gillmore JD. A comparison of immunohistochemistry and mass spectrometry for determining the amyloid fibril protein from formalin-fixed biopsy tissue. J Clin Pathol 2015; 68: 314–7.
   PubMed Web of Science ®Google Scholar
• Fernández de Larrea C, Verga L, Morbini P, Klersy C, Lavatelli F, Foli A, Obici L, Milani P, Capello Gl, Paulli M, Palladini G, Merlini G. A practical approach to the diagnosis of systemic amyloidoses. Blood 2015; 125: 2239–44.
   PubMed Web of Science ®Google Scholar
• Vrana JA, Theis JD, Dasari S, Mereuta OM, Dispenzieri A, Zeldenrust SR, Gertz MA, Kurtin PJ, Grogg KL, Dogan A. Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics. Haematologica 2014; 99: 1239–47.
   PubMed Web of Science ®Google Scholar
• Falk RH. Cardiac amyloidosis: a treatable disease, often overlooked. Circulation 2011; 124: 1079–85.
   PubMed Web of Science ®Google Scholar
• Gertz MA, Skinner M, Connors LH, Falk RH, Cohen AS, Kyle RA. Selective binding of nifedipine to amyloid fibrils. Am J Cardiol 1985; 55: 1646.
   Web of Science ®Google Scholar
• Dubrey SW, Cha K, Anderson J, Chamarthi B, Reisinger J, Skinner M, Falk RH. The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. QJM 1998; 91: 141–57.
   PubMed Web of Science ®Google Scholar
• Kpodonu J, Massad MG, Caines A, Geha AS. Outcome of heart transplantation in patients with amyloid cardiomyopathy. J Heart Lung Transplant 2005; 24: 1763–5.
   PubMed Web of Science ®Google Scholar
• Careddu L, Zanfi C, Pantaleo A, Loforte A, Ercolani G, Cescon M, Alvaro N, Pilato E, Marinelli G, Pinna AD. Combined heart-liver transplantation: a single-center experience. Transpl Int 2015; 28: 828–34.
   PubMed Web of Science ®Google Scholar
• Venner CP, Lane T, Foard D, Rannigan L, Gibbs SD, Pinney JH, Whelan CJ, Lachmann HJ, Gillmore JD, Hawkins PN, Wechalekar AD. Cyclophosphamide, bortezomib, and dexamethasone therapy in AL amyloidosis is associated with high clonal response rates and prolonged progression-free survival. Blood 2012; 119: 4387–90.
   PubMed Web of Science ®Google Scholar
• Venner CP, Gillmore JD, Sachchithanantham S, Mahmood S, Lane T, Foard D, Rannigan L, Gibbs SD, Pinney JH, Whelan CJ, Lachmann HJ, Hawkins PN, Wechalekar AD. A matched comparison of cyclophosphamide, bortezomib and dexamethasone (CVD) versus risk-adapted cyclophosphamide, thalidomide and dexamethasone (CTD) in AL amyloidosis. Leukemia 2014; 28: 2304–10.
   PubMed Web of Science ®Google Scholar
• SATTIANAYAGAM PT, HAHN AF, WHELAN CJ, GIBBS SD, PINNEY JH, STANGOU AJ, ROWCZENIO D, PFLUGFELDER PW, FOX Z, LACHMANN HJ, WECHALEKAR AD, HAWKINS PN, GILLMORE JD. CARDIAC PHENOTYPE AND CLINICAL OUTCOME OF FAMILIAL AMYLOID POLYNEUROPATHY ASSOCIATED WITH TRANSTHYRETIN ALANINE 60 VARIANT. EUR HEART J 2012; 33: 1120–7.
   PubMed Web of Science ®Google Scholar