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The systemic amyloidoses: Clearer understanding of the molecular mechanisms offers hope for more effective therapies
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Merlini G, Westermark P. The systemic amyloidoses: clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med 2004;255:159-78.
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Folding proteins in fatal ways
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Selkoe DJ. Folding proteins in fatal ways. Nature 2003;426:900-4.
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Nature
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Selkoe, D.J.1
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Systemic cardiac amyloidoses: Disease profi les and clinical courses of the 3 main types
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A large review analysing the diagnostic and clinical profiles of the different types of cardiac amyloid
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Rapezzi C, Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: disease profi les and clinical courses of the 3 main types. Circulation 2009;120:1203-12. A large review analysing the diagnostic and clinical profiles of the different types of cardiac amyloid.
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Rapezzi, C.1
Merlini, G.2
Quarta, C.C.3
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Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis
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Koyama J, Ray-Sequin PA, Falk RH. Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis. Circulation 2003;107:2446- 52.
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Circulation
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Koyama, J.1
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Prognostic significance of strain Doppler imaging in light-chain amyloidosis
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Koyama J, Falk RH. Prognostic significance of strain Doppler imaging in light-chain amyloidosis. JACC Cardiovasc Imaging 2010;3:333-42.
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JACC Cardiovasc Imaging
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Koyama, J.1
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7
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Rotational mechanics of the left ventricle in AL amyloidosis
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Porciani MC, Cappelli F, Perfetto F, et al. Rotational mechanics of the left ventricle in AL amyloidosis. Echocardiography 2010;27:1061-8.
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Echocardiography
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Porciani, M.C.1
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Characteristics of left ventricular rotational mechanics in patients with systemic amyloidosis, systemic hypertension and normal left ventricular mass
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Cappelli F, Porciani MC, Bergesio F, et al. Characteristics of left ventricular rotational mechanics in patients with systemic amyloidosis, systemic hypertension and normal left ventricular mass. Clin Physiol Funct Imaging 2011;31:159-65.
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Clin Physiol Funct Imaging
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Cappelli, F.1
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Intracardiac thrombosis and embolism in patients with cardiac amyloidosis
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Feng D, Edwards WD, Oh JK, et al. Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation 2007;116:2420-6.
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Circulation
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Feng, D.1
Edwards, W.D.2
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10
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Cardiovascular magnetic resonance in cardiac amyloidosis
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A recent review on the role of LGE in the assessment of severity and the prognosis in cardiac amyloid
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Maceira AM, Joshi J, Prasad SK, et al. Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation 2005;111:186-93. A recent review on the role of LGE in the assessment of severity and the prognosis in cardiac amyloid.
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Circulation
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Maceira, A.M.1
Joshi, J.2
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Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy
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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;46:1076-84.
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Salvi, F.3
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Role of cardiac magnetic resonance imaging in the detection of cardiac amyloidosis
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A recent study demonstrating the role of LGE CMR in identifying cardiac amyloid and its association between clinical, morphological, functional, and biochemical features
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Syed IS, Glockner JF, Feng D, et al. Role of cardiac magnetic resonance imaging in the detection of cardiac amyloidosis. JACC Cardiovasc Imaging 2010;3:155-64. A recent study demonstrating the role of LGE CMR in identifying cardiac amyloid and its association between clinical, morphological, functional, and biochemical features.
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(2010)
JACC Cardiovasc Imaging
, vol.3
, pp. 155-164
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Syed, I.S.1
Glockner, J.F.2
Feng, D.3
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13
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Cardiovascular magnetic resonance and prognosis in cardiac amyloidosis
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Maceira AM, Prasad SK, Hawkins PN, et al. Cardiovascular magnetic resonance and prognosis in cardiac amyloidosis. J Cardiovasc Magn Reson 2008;10:54.
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J Cardiovasc Magn Reson
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Maceira, A.M.1
Prasad, S.K.2
Hawkins, P.N.3
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14
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0018217791
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Cardiac sarcoid: A clinicopathologic study of 84 unselected patients with systemic sarcoidosis
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Landmark retrospective study looking at the incidence of antemortem clinical manifestations and postmortem evidence of myocardial lesions in necropsy of patients with cardiac sarcoidosis
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Silverman KJ, Hutchins GM, Bulkley BH. Cardiac sarcoid: a clinicopathologic study of 84 unselected patients with systemic sarcoidosis. Circulation 1978;58:1204-11. Landmark retrospective study looking at the incidence of antemortem clinical manifestations and postmortem evidence of myocardial lesions in necropsy of patients with cardiac sarcoidosis.
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(1978)
Circulation
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Silverman, K.J.1
Hutchins, G.M.2
Bulkley, B.H.3
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15
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65349171518
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The work-up and management of patients with apparent or subclinical cardiac sarcoidosis: With emphasis on the associated heart rhythm abnormalities
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Soejima K, Yada H. The work-up and management of patients with apparent or subclinical cardiac sarcoidosis: with emphasis on the associated heart rhythm abnormalities. J Cardiovasc Electrophysiol 2009;20:578-83.
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J Cardiovasc Electrophysiol
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Soejima, K.1
Yada, H.2
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16
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45949106121
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Cardiac involvement in patients with sarcoidosis: Diagnostic and prognostic value of outpatient testing
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This is the first study to show that advanced cardiac imaging with PET scanning or CMR is more sensitive than established Japanese criteria for identification of cardiac sarcoidosis
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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- 35. This is the first study to show that advanced cardiac imaging with PET scanning or CMR is more sensitive than established Japanese criteria for identification of cardiac sarcoidosis.
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(2008)
Chest
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Mehta, D.1
Lubitz, S.A.2
Frankel, Z.3
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17
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7244258857
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Early detection of cardiac involvement in patients with sarcoidosis by a non-invasive method with ultrasonic tissue characterisation
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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;90:1275-80.
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Heart
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Hyodo, E.1
Hozumi, T.2
Takemoto, Y.3
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18
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25444465120
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Focal uptake on 18F- Fluoro-2-deoxyglucose positron emission tomography images indicates cardiac involvement of sarcoidosis
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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;26:1538-43.
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Eur Heart J
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Ishimaru, S.1
Tsujino, I.2
Takei, T.3
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19
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70349652422
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Effectiveness of prolonged fasting 18f-FDG PET-CT in the detection of cardiac sarcoidosis
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Langah R, Spicer K, Gebregziabher M, et al. Effectiveness of prolonged fasting 18f-FDG PET-CT in the detection of cardiac sarcoidosis. J Nucl Cardiol 2009;16:801-10.
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J Nucl Cardiol
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Langah, R.1
Spicer, K.2
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20
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84856785957
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The use of 18F-FDG PET in the diagnosis of cardiac sarcoidosis: A systematic review and meta-analysis including the Ontario experience
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Youssef G, Leung E, Mylonas I, et al. The use of 18F-FDG PET in the diagnosis of cardiac sarcoidosis: a systematic review and meta-analysis including the Ontario experience. J Nucl Med 2012;53:241-8.
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J Nucl Med
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Youssef, G.1
Leung, E.2
Mylonas, I.3
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21
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18944366839
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Evaluation of the accuracy of gadolinium-enhanced cardiovascular magnetic resonance in the diagnosis of cardiac sarcoidosis
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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;45:1683-90.
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J Am Coll Cardiol
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Smedema, J.P.1
Snoep, G.2
Van Kroonenburgh, M.P.3
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22
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72449129161
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Detection of myocardial damage in patients with sarcoidosis
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This is the first prospective study evaluating the utility of delayed enhancement CMR imaging in asymptomatic patients with biopsy proven extracardiac sarcoidosis. The study showed increased adverse cardiac events including sudden cardiac death when there was myocardial involvement
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Patel MR, Cawley PJ, Heitner JF, et al. Detection of myocardial damage in patients with sarcoidosis. Circulation 2009;120:1969-77. This is the first prospective study evaluating the utility of delayed enhancement CMR imaging in asymptomatic patients with biopsy proven extracardiac sarcoidosis. The study showed increased adverse cardiac events including sudden cardiac death when there was myocardial involvement.
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(2009)
Circulation
, vol.120
, pp. 1969-1977
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Patel, M.R.1
Cawley, P.J.2
Heitner, J.F.3
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23
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0036929336
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Clinical signi ficance of myocardial magnetic resonance abnormalities in patients with sarcoidosis: A 1-year follow-up study
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Vignaux O, Dhote R, Duboc D, et al. Clinical signi ficance of myocardial magnetic resonance abnormalities in patients with sarcoidosis: a 1-year follow-up study. Chest 2002;122:1895-901.
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Chest
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Vignaux, O.1
Dhote, R.2
Duboc, D.3
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24
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0037032275
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Cardiac manifestations of Anderson-Fabry disease in heterozygous females
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Kampmann C, Baehner F, Whybra C, et al. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002;40:1668-74.
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J Am Coll Cardiol
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Kampmann, C.1
Baehner, F.2
Whybra, C.3
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25
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4544344055
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Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
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Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 2004;110:1047-53.
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Circulation
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Chimenti, C.1
Pieroni, M.2
Morgante, E.3
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26
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0037979109
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Images in cardiovascular medicine. Myocardial fibrosis in Fabry disease demonstrated by multislice computed tomography: Comparison with biopsy findings
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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;107:2519-20.
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Circulation
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Funabashi, N.1
Toyozaki, T.2
Matsumoto, Y.3
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27
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0141765881
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Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study
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This study demonstrated that enzyme replacement therapy in Fabry disease can decrease LVH and improve regional myocardial function
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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;108:1299-301. This study demonstrated that enzyme replacement therapy in Fabry disease can decrease LVH and improve regional myocardial function.
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(2003)
Circulation
, vol.108
, pp. 1299-1301
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Weidemann, F.1
Breunig, F.2
Beer, M.3
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28
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0037461097
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Early detection of Fabry cardiomyopathy by tissue Doppler imaging
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Pieroni M, Chimenti C, Ricci R, et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003;107:1978-84.
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Circulation
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Pieroni, M.1
Chimenti, C.2
Ricci, R.3
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29
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Fabry's disease cardiomyopathy: Echocardiographic detection of endomyocardial glycosphingolipid compartmentalization
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Pieroni M, Chimenti C, De Cobelli F, et al. Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol 2006;47:1663-71.
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J Am Coll Cardiol
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Pieroni, M.1
Chimenti, C.2
De Cobelli, F.3
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30
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0344430257
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Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium
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Moon JC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003;24:2151-5.
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Eur Heart J
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Moon, J.C.1
Sachdev, B.2
Elkington, A.G.3
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31
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61349177862
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Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: Evidence for a better outcome with early treatment
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This study showed the long term benefits of early detection and treatment in Fabry's disease. This is one of the few examples where non-invasive cardiac imaging has a positive impact on long term outcomes
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Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009;119:524-9. This study showed the long term benefits of early detection and treatment in Fabry's disease. This is one of the few examples where non-invasive cardiac imaging has a positive impact on long term outcomes.
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(2009)
Circulation
, vol.119
, pp. 524-529
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Weidemann, F.1
Niemann, M.2
Breunig, F.3
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32
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33847233933
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MRI characterization of myocardial tissue in patients with Fabry's disease
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Imbriaco M, Spinelli L, Cuocolo A, et al. MRI characterization of myocardial tissue in patients with Fabry's disease. Am J Roentgenol 2007;188:850-3.
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Am J Roentgenol
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Imbriaco, M.1
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33
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Role of T2*magnetic resonance in monitoring iron chelation therapy
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Carpenter JP, Pennell DJ. Role of T2*magnetic resonance in monitoring iron chelation therapy. Acta Haematol 2009;122:146-54.
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Acta Haematol
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Carpenter, J.P.1
Pennell, D.J.2
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34
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18044399191
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Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload
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First study to validate the role of T2*CMR in non-invasive assessment of myocardial iron overload
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Anderson LJ, Holden S, Davis B, et al. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J 2001;22:2171-9. First study to validate the role of T2*CMR in non-invasive assessment of myocardial iron overload.
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Eur Heart J
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Anderson, L.J.1
Holden, S.2
Davis, B.3
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35
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Myocardial iron loading in transfusion-dependent thalassemia and sickle cell disease
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Wood JC, Tyszka JM, Carson S, et al. Myocardial iron loading in transfusion-dependent thalassemia and sickle cell disease. Blood 2004;103:1934-6.
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Blood
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Wood, J.C.1
Tyszka, J.M.2
Carson, S.3
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36
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72449177984
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Cardiac T2*magnetic resonance for prediction of cardiac complications in thalassemia major
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Kirk P, Roughton M, Porter JB, et al. Cardiac T2*magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation 2009;120:1961-8.
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Circulation
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Kirk, P.1
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Porter, J.B.3
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37
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57349095277
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Improved survival of thalassaemia major in the UK and relation to T2*cardiovascular magnetic resonance
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A large study that demonstrated T2*CMR can predict heart failure and arrhythmia in thalassaemia major
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Modell B, Khan M, Darlison M, et al. Improved survival of thalassaemia major in the UK and relation to T2*cardiovascular magnetic resonance. J Cardiovasc Magn Reson 2008;10:42. A large study that demonstrated T2*CMR can predict heart failure and arrhythmia in thalassaemia major.
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J Cardiovasc Magn Reson
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, pp. 42
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Modell, B.1
Khan, M.2
Darlison, M.3
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