Günlük pratikte tanıdan tedaviye amiloid kardiyomiyopati

Year 2020, Volume: 45 Issue: 4, 1792 - 1802, 27.12.2020

Asuman Biçer , Mustafa Beğenç Taşcanov , Zülkif Tanrıverdi

https://doi.org/10.17826/cumj.780658

Cited By: 1

Abstract

Amiloidoz; organ ve yumuşak dokuların hücre dışı boşluğunda amiloid fibril birikiminin neden olduğu bir hastalıktır. Öncü proteinin tipine göre amiloidoz sınıflandırması yapılır. Kalp, böbrek, karaciğer, gastrointestinal sistem ve/veya otonom sinir sistemi gibi çeşitli organlarda amiloid birikimi izlenebilmekle birlikte, prognozu en kötü olan organ tutulumu türü kardiyak amiloidozdur. Birçok amiloidoz türleri arasında hemen hemen tüm klinik kardiyak amiloidoz vakalarına, transtiretin amiloidoz (ATTR) veya hafif zincir amiloidoz (AL veya primer sistemik) neden olur. Kardiyak ATTR; kalıtsal (ATTRm) veya doğal tip (ATTRwt) olabilir. Kardiyak tutulum sıklığı ve kardiyomiyopatinin prognozu amiloidoz tipleri arasında değişkenlik gösterir ve klinik belirtiler, organ tutulum paternine bağlı olarak değişir. Değişken klinik fenotip ve genellikle özgül olmayan klinik özellikler, bu hastalıkta tanıda gecikmelere neden olabilir ve tanıda multidisipliner (hematoloji, patoloji, radyoloji, nükleer tıp, nöroloji, nefroloji, kardiyoloji, romatoloji, gastroenteroloji) yaklaşım gerekir. Gelişen tanı yöntemleri klinisyene kardiyak amiloidozda erken tanı olanağını vermektedir. Kardiyak amiloidozdan şüphelenilen hastalarda; görüntüleme yöntemleri ve gerekirse doku biyopsisi ile amiloid birikimi gösterilmelidir. Amiloidoza sebep olan öncü protein saptandıktan sonra, altta yatan hastalığın tedavisi ve semptomatik hastalarda kalp yetmezliğine yönelik tedavi uygulanmaktadır. Erken tanı ve tedavi yaklaşımları ile prognozun düzeltilebildiği gösterilmiştir. Bu derlemede, kardiyak amiloidoz hastalığı hakkında farkındalığın artırılması amaçlanmış olup, günlük pratiğimizde kullanabileceğimiz güncel tanı yöntemleri ve tedavi yaklaşımları ele alınacaktır.

Keywords

ekokardiyografi, kardiyak amiloidoz, kardiyak görüntüleme, restriktif kardiyomiyopati

Amyloid cardiomyopathy from diagnosis to treatment in daily practice

Abstract

Amyloidosis is a disease caused by the accumulation of amyloid fibril in the extracellular space of organs and soft tissues. Amyloidosis classification is made according to the type of precursor protein. Although amyloid accumulation can be observed in various organs such as heart, kidney, liver, gastrointestinal and/or autonomic nervous system; the worst prognosis type of organ involvement is cardiac amyloidosis. Among many types of amyloidosis, almost all clinical cases of cardiac amyloidosis are caused by transtiretin amyloidosis (ATTR) or light chain amyloidosis (AL or primary systemic). Cardiac ATTR can be hereditary (ATTRm) or wild type (ATTRwt). The frequency of cardiac involvement and prognosis of cardiomyopathy varies between the types of amyloidosis and clinical symptoms vary depending on the organ involvement pattern. Variable clinical phenotype and often non-specific clinical features can cause delays in diagnosis and a multidisciplinary (hematology, pathology, radiology, nuclear medicine, neurology, nephrology, cardiology, rheumatology, gastroenterology) approach is required in diagnosis. The developing diagnostic methods give the clinician early diagnosis of cardiac amyloidosis. Amyloid accumulation should be demonstrated by imaging methods and tissue biopsy is necessary in patients with suspected cardiac amyloidosis. Once the precursor protein that causes amyloidosis has been identified, treatment of the underlying disease and heart failure is performed in symptomatic patients. It has been shown that prognosis can be corrected with early diagnosis and treatment approaches. In this review, it is aimed to raise awareness about cardiac amyloidosis disease, current diagnostic methods and treatment approaches that we can use in our daily practice will be discussed.

Keywords

amyloidosis, cardiac

References

• Fontana M, Corovic A, Scully P, Moon JC. Myocardial Amyloidosis: The Exemplar Interstitial Disease. JACC Cardiovasc Imaging 2019;12:2345-56.
• Falk RH, Alexander KM, Liao R, Dorbala S. AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy. J Am Coll Cardiol 2016;68:1323-41.
• Gertz MA, Benson MD, Dyck PJ, Grogan M, Coelho T, Cruz M, et al. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol 2015;66:2451-66.
• Sipe JD, Benson MD, Buxbaum JN, Ikeda SI, Merlini G, Saraiva MJM, et al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification. International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid 2016;23:209-213.
• Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation 2012;126:1286-300.
• Gonzalez-Lopez E, Gallego-Delgado M, Guzzo-Merello G, de Haro-Del Moral FJ, Cobo-Marcos M, Robles C, Bornstein B, et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 2015;36:2585-94.
• 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.
• Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet 2016;387:2641-54.
• Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003;349:583-96.
• Kyle RA, Linos A, Beard CM, Gertz MA, O'Fallon WM, Kurland LT. Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood 1992; 79:1817-22.
• Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: assessment, diagnosis, and referral. Heart 2011;97:75-84.
• Liao R, Jain M, Teller P, Connors LH, Ngoy S, Skinner M, et al. Infusion of light chains from patients with cardiac amyloidosis causes diastolic dysfunction in isolated mouse hearts. Circulation 2001; 104:1594-97.
• Shi J, Guan J, Jiang B, Monte FD, Ward JE, Connors LH, et al. Amyloidogenic light chains induce cardiomyocyte contractile dysfunction and apoptosis via a non-canonical p38alpha MAPK pathway. Proc Natl Acad Sci U S A 2010; 107:4188-93.
• 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; 80:1242-45.
• Martinez-Naharro A, Gonzalez-Lopez E, Corovic A, Mirelis JG, Baksi AJ, Moon JC, et al. High Prevalence of Intracardiac Thrombi in Cardiac Amyloidosis. J Am Coll Cardiol 2019;73:1733-34.
• El-Am EA, Dispenzieri A, Melduni RM, Ammash NM, White RD, Hodge DO, et al. Direct Current Cardioversion of Atrial Arrhythmias in Adults With Cardiac Amyloidosis. J Am Coll Cardiol 2019; 73:589-97.
• Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol 2019; 73:2872-91.
• Treibel TA, Fontana M, Gilbertson JA, Castelletti S, White SK, Scully PR, et al. Occult Transthyretin Cardiac Amyloid in Severe Calcific Aortic Stenosis: Prevalence and Prognosis in Patients Undergoing Surgical Aortic Valve Replacement. Circ Cardiovasc Imaging. 2016 Aug;9(8):e005066.
• Longhi S, Lorenzini M, Gagliardi C, Milandri A, Marzocchi A, Marrozzini C, et al. Coexistence of Degenerative Aortic Stenosis and Wild-Type Transthyretin-Related Cardiac Amyloidosis. JACC Cardiovasc Imaging 2016;9:325-27.
• 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;114:1089-93.
• Mussinelli R, Salinaro F, Alogna A, Boldrini M, Raimondi A, Musca F, et al. Diagnostic and prognostic value of low QRS voltages in cardiac AL amyloidosis. Ann Noninvasive Electrocardiol 2013; 18:271-80.
• Gonzalez-Lopez E, Gagliardi C, Dominguez F, Quarta CC, Moral FJHD 5, Milandri A, et al. Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths. Eur Heart J 2017; 38:1895-1904.
• Longhi S, Quarta CC, Milandri A, Lorenzini M, Gagliardi C, Manuzzi L, et al. Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role. Amyloid 2015; 22:147-55.
• Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis. Circulation 2017; 135:1357-77.
• Martinez-Naharro A, Treibel TA, Abdel-Gadir A, Bulluck H, Zumbo G, Knight DS, et al. Magnetic Resonance in Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol 2017;70:466-77.
• Knight DS, Zumbo G, Barcella W, Steeden JA, Muthurangu V, Naharro AM, 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.
• Phelan D, Collier P, Thavendiranathan P, Popoviv ZB, Hanna M, Plana JC, et al. Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart 2012; 98:1442-48.
• Phelan D, Thavendiranathan P, Popovic Z, Collier P, Griffin B, Thomas JD, et al. Application of a parametric display of two-dimensional speckle-tracking longitudinal strain to improve the etiologic diagnosis of mild to moderate left ventricular hypertrophy. J Am Soc Echocardiogr 2014;27:888-95.
• 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; 6:1041-51.
• Dorbala S, Cuddy S, Falk RH. How to Image Cardiac Amyloidosis: A Practical Approach. JACC Cardiovasc Imaging 2020;13(6):1368-83.
• 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.
• Habib G, Bucciarelli-Ducci C, Caforio ALP, Cardim N, Charron P, Cosyns B, et al. Multimodality Imaging in Restrictive Cardiomyopathies: An EACVI expert consensus document In collaboration with the “Working Group on myocardial and pericardial diseases” of the European Society of Cardiology Endorsed by The Indian Academy of Echocardiography. Eur Heart J Cardiovasc Imaging 2017;18:1090-121.
• Syed IS, Glockner JF, Feng D, Araoz PA, Martinez MW, Edwards WD, et al. Role of cardiac magnetic resonance imaging in the detection of cardiac amyloidosis. JACC Cardiovasc Imaging 2010;3:155-64.
• Cavusoglu Y, Ozpelit E, Celik A, Ikitimur B, Kayıkcioglu M, Tokgozoglu L, et al. [Cardiac amyloidosis: Recent advances in the diagnosis and therapy]. Turk Kardiyol Dern Ars. 2019 Jun;47(Suppl 2):1-34.
• Vogelsberg H, Mahrholdt H, Deluigi CC, Yilmaz A, Kispert EM, Greulich S, et al. Cardiovascular magnetic resonance in clinically suspected cardiac amyloidosis: noninvasive imaging compared to endomyocardial biopsy. J Am Coll Cardiol 2008;51:1022-30.
• Austin BA, Tang WH, Rodriguez ER, Tan C, Flamm SD, Taylor DO, et al. Delayed hyper-enhancement magnetic resonance imaging provides incremental diagnostic and prognostic utility in suspected cardiac amyloidosis. JACC Cardiovasc Imaging 2009; 2:1369-77.
• Ruberg FL, Appelbaum E, Davidoff R, Ozonoff A, Kissinger KV, Harrigan C, et al. Diagnostic and prognostic utility of cardiovascular magnetic resonance imaging in light-chain cardiac amyloidosis. Am J Cardiol 2009;103:544-49.
• Syed IS, Glockner JF, Feng D, Araoz PA, Martinez MW, Edwards WD, et al. Role of cardiac magnetic resonance imaging in the detection of cardiac amyloidosis. JACC Cardiovasc Imaging 2010;3:155-64.
• 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.
• Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS, et al. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol 2019;73:2872-91.
• Griffiths BE, Hughes P, Dowdle R, Stephens MR. Cardiac amyloidosis with asymmetrical septal hypertrophy and deterioration after nifedipine. Thorax. 1982 Sep;37(9):711-12.
• 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.
• Pollak A, Falk RH. Left ventricular systolic dysfunction precipitated by verapamil in cardiac amyloidosis. Chest. 1993;104(2):618-20.
• Davis MK, Kale P, Liedtke M, Schrier S, Arai S, Wheeler M, et al. Outcomes after heart transplantation for amyloid cardiomyopathy in the modern era. Am J Transplant. 2015;15(3):650-58.
• Fuchs U, Zittermann A, Suhr O, Holmgren G, Tenderich G, Minami K, et al. Heart transplantation in a 68-year-old patient with senile systemic amyloidosis. Am J Transplant. 2005 May;5(5):1159-62.
• Careddu L, Zanfi C, Pantaleo A, Loforte A, Ercolani G, Cescon M, et al. Combined heart-liver transplantation: a single-center experience. Transpl Int. 2015;28(7):828-34.
• Feng D, Syed IS, Martinez M, Oh JK, Jaffe AS, Grogan M, et al. Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis. Circulation. 2009;119(18):2490-97.
• Lin G, Dispenzieri A, Kyle R, Grogan M, Brady PA. Implantable cardioverter defibrillators in patients with cardiac amyloidosis. J Cardiovasc Electrophysiol. 2013;24(7):793-98.
• 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(11):1007-16.
• Raichlin E, Daly RC, Rosen CB, McGregor CG, Charlton MR, Frantz RP, et al. Combined heart and liver transplantation: a single-center experience. Transplantation. 2009;88(2):219-25.