Vol 9, No 3 (2018)
Case report
Published online: 2018-10-17
Novel diagnostic pathways in cardiac amyloidosis. Case-series study on transthyretin amyloidosis.
Hematologia 2018;9(3):254-264.
Abstract
The systemic amyloidosis are diseases induced by misfolded proteins. These insoluble proteins deposit in extracellular space. Infiltration the heart by amyloid can result in progressive diastolic and systolic dysfunction and restrictive cardiomyopathy phenotype – left ventricle hypertrophy and stiffness. More than 20 different precursor proteins have the propensity to form amyloid fibrils. One of the most common amyloid infiltrating the heart is transthyretin amyloid (ATTR) - mostly inherited disease. ATTR is generally considered a mainly neurological disease, but it is phenotypically heterogeneous and the clinical spectrum of the disease varies widely, which makes the diagnosis a real challenge. Although, the early diagnosis improve the prognosis, especially due to new drug introduced in ATTR - tafamidis. In this article we would like to present the case series of transthyretin amyloidosis, which was diagnosed by heart scintigraphy or genetic testing.
Keywords: restrictive cardiomyopathytranstyretin amyloidosis ATTR
References
- Shah KB, Inoue Y, Mehra MR. Amyloidosis and the heart: a comprehensive review. Arch Intern Med. 2006; 166(17): 1805–1813.
- Gilead S, Gazit E. Inhibition of amyloid fibril formation by peptide analogues modified with alpha-aminoisobutyric acid. Angew Chem Int Ed Engl. 2004; 43(31): 4041–4044.
- Kagan BL, Azimov R, Azimova R. Amyloid peptide channels. J Membr Biol. 2004; 202(1): 1–10.
- Kadowaki H, Nishitoh H, Urano F, et al. Amyloid beta induces neuronal cell death through ROS-mediated ASK1 activation. Cell Death Differ. 2005; 12(1): 19–24.
- Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006; 11(113): 1807–1816.
- Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008; 29(2): 270–276.
- Westermark P, Benson MD, Buxbaum JN, et al. A primer of amyloid nomenclature. Amyloid. 2007; 14(3): 179–183.
- Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012; 126(10): 1286–1300.
- Planté-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007; 69(7): 693–698.
- Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010; 7(7): 398–408.
- Damy T, Costes B, Hagège AA, et al. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J. 2016; 37(23): 1826–1834.
- 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(38): 2585–2594.
- 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(38): 2879–2887.
- Maurer MS, Schwartz JH, Gundapaneni B, et al. ATTR-ACT Study Investigators. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018; 379(11): 1007–1016.
- Murtagh B, Hammill SC, Gertz MA, et al. Electrocardiographic findings in primary systemic amyloidosis and biopsy-proven cardiac involvement. Am J Cardiol. 2005; 95(4): 535–537.
- Takemura G, Takatsu Y, Doyama K, et al. Expression of atrial and brain natriuretic peptides and their genes in hearts of patients with cardiac amyloidosis. J Am Coll Cardiol. 1998; 31(4): 754–765.
- Ponikowski P, Voors A, Anker S, et al. 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur J Heart Fail. 2016; 18(8): 891–975.
- Dispenzieri A, Gertz MA, Kyle RA, et al. Prognostication of survival using cardiac troponins and N-terminal pro-brain natriuretic peptide in patients with primary systemic amyloidosis undergoing peripheral blood stem cell transplantation. Blood. 2004; 104(6): 1881–1887.
- Desport E, Bridoux F, Sirac C, et al. Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales. Al amyloidosis. Orphanet J Rare Dis. 2012; 7: 54.
- Kristen AV, Perz JB, Schonland SO, et al. Rapid progression of left ventricular wall thickness predicts mortality in cardiac light-chain amyloidosis. J Heart Lung Transplant. 2007; 26(12): 1313–1319.
- Park SJ, Miyazaki C, Bruce CJ, et al. Left ventricular torsion by two-dimensional speckle tracking echocardiography in patients with diastolic dysfunction and normal ejection fraction. J Am Soc Echocardiogr. 2008; 21(10): 1129–1137.
- Maceira AM, Joshi J, Prasad SK, et al. Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation. 2005; 111(2): 186–193.
- Chen W, Ton VK, Dilsizian V. Clinical phenotyping of transthyretin cardiac amyloidosis with bone-seeking radiotracers in heart failure with preserved ejection fraction. Curr Cardiol Rep. 2018; 20(4): 23.
- Algalarrondo V, Piekarski E, Eliahou L, et al. Can nuclear imaging techniques predict patient outcome and guide medical management in hereditary transthyretin cardiac amyloidosis? Curr Cardiol Rep. 2018; 20(5): 33.
- Harb SC, Haq M, Flood K, et al. National patterns in imaging utilization for diagnosis of cardiac amyloidosis: a focus on Tc99m-pyrophosphate scintigraphy. J Nucl Cardiol. 2017; 24(3): 1094–1097.
- Perugini E, Guidalotti PL, Salvi F, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005; 46(6): 1076–1084.
- Kristen AV, Scherer K, Buss S, et al. Noninvasive risk stratification of patients with transthyretin amyloidosis. JACC Cardiovasc Imaging. 2014; 7(5): 502–510.
- Bokhari S, Castaño A, Pozniakoff T, et al. (99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging. 2013; 6(2): 195–201.
- Corbett JR, Lewis SE, Wolfe CL, et al. Measurement of myocardial infarct size by technetium pyrophosphate single-photon tomography. Am J Cardiol. 1984; 54(10): 1231–1236.
- Rude RE, Parkey RW, Bonte FJ, et al. Clinical implications of the technetium-99m stannous pyrophosphate myocardial scintigraphic "doughnut" pattern in patients with acute myocardial infarcts. Circulation. 1979; 59(4): 721–730.
- Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016; 133(24): 2404–2412.
- Castano A, Haq M, Narotsky DL, et al. Multicenter study of planar technetium 99m pyrophosphate cardiac imaging: predicting survival for patients with ATTR cardiac amyloidosis. JAMA Cardiol. 2016; 1(8): 880–889.
- Rapezzi C, Quarta CC, Guidalotti PL, et al. Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging. 2011; 4(6): 659–670.
- Longhi S, Guidalotti PL, Quarta CC, et al. Identification of TTR-related subclinical amyloidosis with 99mTc-DPD scintigraphy. JACC Cardiovasc Imaging. 2014; 7(5): 531–532.
- Quarta CC, Solomon SD. Stabilizing transthyretin to treat ATTR cardiomyopathy. N Engl J Med. 2018; 379(11): 1083–1084.
