Die kardiale Amyloidose – ein Krankheitsbild im Wandel

Abstract

A fast and reliable diagnosis of cardiac amyloidosis requires a significant amount of clinical awareness. It is especially important to come to an early diagnosis in patients with cardiac AL amyloidosis in order to improve the otherwise unfavourable clinical course in these patients. There is a significant increase in the number of patients with cardiac amyloidosis of the ATTR wild-type variety. These patients are often elderly males presenting with predominantly right sided heart failure. We present a diagnostic pathway enabling a structured approach to these patients using multimodality cardiac imaging and endomyocardial biopsy. Early chemotherapy is the key to improving symptoms in patients with AL amyloidosis. In contrast, pharmacologic approaches for treating cardiac ATTR amyloidosis need further research and clinical trials.

Der Begriff Amyloidose beschreibt die Ablagerung fibrillärer Strukturen (Amyloid), die aus mehreren Untereinheiten verschiedener Serumproteine bestehen können. Amyloid-Ablagerungen können viele Organe betreffen – in Herz, Niere, Leber oder autonomem Nervensystem sind sie meist für Morbidität und Mortalität verantwortlich. Dieser Beitrag widmet sich der kardialen Amyloidose, deren Diagnose ein hohes Maß an klinischer Aufmerksamkeit erfordert.

Schlüsselwörter

kardiale Amyloidose - kardiale Magnetresonanztomografie - Knochenszintigrafie - Endomyokardbiopsie - neue Therapieansätze

Key words

cardiac amyloidosis - cardiac magnetic resonance imaging - bone scintigraphy - endomoycardial biopsy - new therapeutic approaches

• Literatur

• 1 Rapezzi C, Merlini G, Quarta CC. et al. Systemic cardiac amyloidoses: Disease profiles and clinical courses of the 3 main types. Circulation 2009; 120: 1203-1212
• 2 Mohammed SF, Mirzoyev SA, Edwards WD. et al. Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. JACC Heart Fail 2014; 2: 113-122
• 3 Gonzalez-Lopez 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
• 4 Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: Assessment, diagnosis, and referral. Heart 2011; 97: 75-84
• 5 Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation 2005; 112: 2047-2060
• 6 Maurer MS, Elliott P, Comenzo R. et al. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation 2017; 135: 1357-1377
• 7 Gillmore JD, Damy T, Fontana M. et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J 2017; Oct 18. doi:10.1093/eurheartj/ehx589 [Epub ahead of print]
• 8 Selvanayagam JB, Hawkins PN, Paul B. et al. Evaluation and management of the cardiac amyloidosis. J Am Coll Cardiol 2007; 50: 2101-2110
• 9 Quarta CC, Solomon SD, Uraizee I. et al. Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis. Circulation 2014; 129: 1840-1849
• 10 Ternacle J, Bodez D, Guellich A. et al. Causes and consequences of longitudinal LV dysfunction assessed by 2d strain echocardiography in cardiac amyloidosis. JACC Cardiovasc Imaging 2016; 9: 126-138
• 11 Syed IS, Glockner JF, Feng D. et al. Role of cardiac magnetic resonance imaging in the detection of cardiac amyloidosis. JACC Cardiovasc Imaging 2010; 3: 155-164
• 12 Vogelsberg H, Mahrholdt H, Deluigi CC. et al. Cardiovascular magnetic resonance in clinically suspected cardiac amyloidosis: Noninvasive imaging compared to endomyocardial biopsy. J Am Coll Cardiol 2008; 51: 1022-1030
• 13 Martinez-Naharro A, Treibel TA, Abdel-Gadir A. et al. Magnetic resonance in transthyretin cardiac amyloidosis. J Am Coll Cardiol 2017; 70: 466-477
• 14 Bokhari S, Castano 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: 195-201
• 15 Gillmore JD, Maurer MS, Falk RH. et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016; 133: 2404-2412
• 16 Falk RH, Alexander KM, Liao R. et al. Al (light-chain) cardiac amyloidosis: A review of diagnosis and therapy. J Am Coll Cardiol 2016; 68: 1323-1341
• 17 Lin G, Dispenzieri A, Kyle R. et al. Implantable cardioverter defibrillators in patients with cardiac amyloidosis. J Cardiovasc Electrophysiol 2013; 24: 793-798
• 18 Kastritis E, Dimopoulos MA. Recent advances in the management of al amyloidosis. Br J Haematol 2016; 172: 170-186
• 19 Adams D, Gonzalez-Duarte A, O’Riordan WD. et al. Patisiran, an rnai therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 2018; 379: 11-21
• 20 Benson MD, Waddington-Cruz M, Berk JL. et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 2018; 379: 22-31
• 21 Richards DB, Cookson LM, Berges AC. et al. Therapeutic clearance of amyloid by antibodies to serum amyloid p component. N Engl J Med 2015; 373: 1106-1114