Abstract
Infiltrative cardiomyopathy can result from a wide spectrum of both inherited and acquired conditions with varying systemic manifestations. They usually portend an adverse prognosis, although in rare instances (e.g. Fabry’s disease) early diagnosis can result in potentially curative treatment. Cardiac amyloid remains the archetypal infiltrative cardiomyopathy and is discussed in great detail in this chapter. Non-invasive imaging modalities, principally echocardiography and cardiovascular magnetic resonance (CMR), play a pivotal role in the early diagnosis and management of all types of infiltrative cardiomyopathy.
References
Merlini G, Westermark P. The systemic amyloidoses: clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med. 2004;255:159–178
Selkoe DJ. Folding proteins in fatal ways. Nature. 2003;426:900–904
Hamer JP, Janssen S, van Rijswijk MH, Lie KI. Amyloid cardiomyopathy in systemic non-hereditary amyloidosis. Clinical, echocardiographic and electrocardiographic findings in 30 patients with AA and 24 patients with AL amyloidosis. Eur Heart J. 1992;13:623–627
Fahy GJ, Marwick T, McCreery CJ, Quigley PJ, Maurer BJ. Doppler echocardiographic detection of left ventricular diastolic dysfunction in patients with pulmonary sarcoidosis. Chest. 1996;109:62–66
Hyodo E, Hozumi T, Takemoto Y, et al Early detection of cardiac involvement in patients with sarcoidosis by a non-invasive method with ultrasonic tissue characterisation. Heart. 2004;90:1275–1280
Rahman JE, Helou EF, Gelzer-Bell R, et al Noninvasive diagnosis of biopsy-proven cardiac amyloidosis. J Am Coll Cardiol. 2004;43:410–415
Carroll JD, Gaasch WH, McAdam KP. Amyloid cardiomyopathy: characterization by a distinctive voltage/mass relation. Am J Cardiol. 1982;49:9–13
Selvanayagam JB, Hawkins PN, Paul B, Myerson SG, Neubauer S. Evaluation and management of the cardiac amyloidosis. J Am Coll Cardiol. 2007;50:2101–2110
Falk RH, Plehn JF, Deering T, et al Sensitivity and specificity of the echocardiographic features of cardiac amyloidosis. Am J Cardiol. 1987;59:418–422
Hongo M, Kono J, Yamada H, et al Doppler echocardiographic assessments of left ventricular diastolic filling in patients with amyloid heart disease. J Cardiol. 1991;21:391–401
Cacoub P, Axler O, De Zuttere D, et al Amyloidosis and cardiac involvement. Ann Med Interne (Paris). 2000;151:611–617
Maceira AM, Joshi J, Prasad SK, et al Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation. 2005;111:186–193
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;46:1076–1084
Hawkins PN. Serum amyloid P component scintigraphy for diagnosis and monitoring amyloidosis. Curr Opin Nephrol Hypertens. 2002;11:649–565
Iannuzzi MC, Rybicki BA, Teirstein AS. Sarcoidosis. N Engl J Med. 2007;357:2153–2165
Dubrey SW, Bell A, Mittal TK. Sarcoid heart disease. Postgrad Med J. 2007;83:618–623
Silverman KJ, Hutchins GM, Bulkley BH. Cardiac sarcoid: a clinicopathologic study of 84 unselected patients with systemic sarcoidosis. Circulation. 1978;58:1204–1211
Thomsen TK, Eriksson T. Myocardial sarcoidosis in forensic medicine. Am J Forensic Med Pathol. 1999;20:52–56
Roberts WC, McAllister HA, Jr. Ferrans VJ. Sarcoidosis of the heart. A clinicopathologic study of 35 necropsy patients (group 1) and review of 78 previously described necropsy patients (group 11). Am J Med. 1977;63:86–108
Deng JC, Baughman RP, Lynch JP, 3rdIII. Cardiac involvement in sarcoidosis. Semin Respir Crit Care Med. 2002;23:513–527
Mehta D, Lubitz SA, Frankel Z, et al Cardiac involvement in patients with sarcoidosis: diagnostic and prognostic value of outpatient testing. Chest. 2008;133:1426–1435
Burstow DJ, Tajik AJ, Bailey KR, DeRemee RA, Taliercio CP. Two-dimensional echocardiographic findings in systemic sarcoidosis. Am J Cardiol. 1989;63:478–482
Yared K, Johri AM, Soni AV, et al Cardiac sarcoidosis imitating arrhythmogenic right ventricular dysplasia. Circulation. 2008;118:e113–e115
Fields CL, Ossorio MA, Roy TM, Denny DM, Varga DW. Thallium-201 scintigraphy in the diagnosis and management of myocardial sarcoidosis. South Med J. 1990;83:339–342
Okayama K, Kurata C, Tawarahara K, Wakabayashi Y, Chida K, Sato A. Diagnostic and prognostic value of myocardial scintigraphy with thallium-201 and gallium-67 in cardiac sarcoidosis. Chest. 1995;107:330–334
Ishimaru S, Tsujino I, Takei T, et al Focal uptake on 18F-fluoro-2-deoxyglucose positron emission tomography images indicates cardiac involvement of sarcoidosis. Eur Heart J. 2005;26:1538–1543
Smedema JP, Snoep G, van Kroonenburgh MP, et al Evaluation of the accuracy of gadolinium-enhanced cardiovascular magnetic resonance in the diagnosis of cardiac sarcoidosis. J Am Coll Cardiol. 2005;45:1683–9160
Doughan AR, Williams BR. Cardiac sarcoidosis. Heart. 2006;92:282–288
Serra JJ, Monte GU, Mello ES, et al Images in cardiovascular medicine. Cardiac sarcoidosis evaluated by delayed-enhanced magnetic resonance imaging. Circulation. 2003;107:e188–e189
Vignaux O, Dhote R, Duboc D, et al Clinical significance of myocardial magnetic resonance abnormalities in patients with sarcoidosis: a 1-year follow-up study. Chest. 2002;122:1895–1901
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276:1163–1167
Kampmann C, Baehner F, Whybra C, et al Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol. 2002;40:1668–1674
Chimenti C, Pieroni M, Morgante E, et al Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047–1053
Funabashi N, Toyozaki T, Matsumoto Y, et al Images in cardiovascular medicine. Myocardial fibrosis in Fabry disease demonstrated by multislice computed tomography: comparison with biopsy findings. Circulation. 2003;107:2519–2520
MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis. 2001;24 (Ssuppl 2):13–14; discussion 11–12
Weidemann F, Breunig F, Beer M, et al Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003;108:1299–1301
Sachdev B, Takenaka T, Teraguchi H, et al Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407–1411
Nakao S, Takenaka T, Maeda M, et al An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288–293
Linhart A, Palecek T, Bultas J, et al New insights in cardiac structural changes in patients with Fabry’s disease. Am Heart J. 2000;139:1101–1108
Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation. 2003;107:1978–1984
Weidemann F, Breunig F, Beer M, et al The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J. 2005;26:1221–1227
Pieroni M, Chimenti C, De Cobelli F, et al Fabry’s disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol. 2006;47:1663–1671
Kounas S, Demetrescu C, Pantazis AA, et al The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy. J Am Coll Cardiol. 2008;51:2058–2061
Moon JCC, Sachdev B, Elkington AG, et al Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease 1: evidence for a disease specific abnormality of the myocardial interstitium. European Heart Journal. 2003;24:2151–2155
Imbriaco M, Spinelli L, Cuocolo A, et al MRI characterization of myocardial tissue in patients with Fabry’s disease. AJR Am J Roentgenol. 2007;188:850–853
Arad M, Maron BJ, Gorham JM, et al Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362–372
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Selvanayagam, J.B., Joseph, M., Neubauer, S. (2010). Infiltrative Cardiomyopathy. In: Zamorano, J.L., Bax, J.J., Rademakers, F.E., Knuuti, J. (eds) The ESC Textbook of Cardiovascular Imaging. Springer, London. https://doi.org/10.1007/978-1-84882-421-8_23
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