Copyright © 2003 by the European Society of Cardiology.
Clinical research
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease1
Evidence for a disease specific abnormality of the myocardial interstitium
a Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital, London, UK
b The Heart Hospital, London, UK
c The Royal Free Hampstead NHS Trust, Royal Free Hospital, London, UK
d National Hospital for Neurology and Neurosurgery, London, UK
* Corresponding author.Dr P. M. Elliott, The Heart Hospital, 16–18 Westmoreland Street, London W1G 8PH, UK. Tel.: +44-207-5738888 ext 4801; Fax: +44-207-5738838
E-mail address: pelliott{at}sghms.ac.uk
Received 5 June 2003; revised 13 August 2003; accepted 19 September 2003
Abstract
Aims Anderson-Fabry Disease (AFD), an X-linked disorder of sphingolipid metabolism, is a cause of idiopathic left ventricular hypertrophy but the mechanism of hypertrophy is poorly understood. Gadolinium enhanced cardiovascular magnetic resonance can detect focal myocardial fibrosis. We hypothesised that hyperenhancement would be present in AFD.
Methods and results Eighteen males (mean 43±14 years) and eight female heterozygotes (mean 48±12 years) with AFD underwent cine and late gadolinium cardiovascular magnetic resonance. Nine male (50%) had myocardial hyperenhancement ranging from 3.4% to 20.6% (mean 7.7±5.7%) of total myocardium; in males, percentage hyperenhancement related to LV mass index (r=0.78, P=0.0002) but not to ejection fraction or left ventricular volumes. Lesser hyperenhancement was also found in four (50%) heterozygous females (mean 4.6%). In 12 (92%) patients with abnormal gadolinium uptake, hyperenhancement occurred in the basal infero-lateral wall where, unlike myocardial infarction, it was not sub-endocardial. In two male patients with severe LVH (left ventricular hypertrophy) and systolic impairment there was additional hyperenhancement in other myocardial segments.
Conclusion These observations suggests that myocardial fibrosis occurs in AFD and may contribute to the hypertrophy and the natural history of the disease.
Key Words: Cardiomyopathy • Hypertrophy • Magnetic resonance imaging • Anderson-Fabry disease
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  F P JUNQUEIRA, R MACEDO, A C COUTINHO, R LOUREIRO, P V DE PONTES, R C DOMINGUES, and E L GASPARETTO Myocardial delayed enhancement in patients with pulmonary hypertension and right ventricular failure: evaluation by cardiac MRI Br. J. Radiol., October 1, 2009; 82(982): 821 - 826. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. A. Gange, M. S. Link, and M. S. Maron Utility of Cardiovascular Magnetic Resonance in the Diagnosis of Anderson-Fabry Disease Circulation, September 29, 2009; 120(13): e96 - e97. [Full Text] [PDF]
|
|
|
|
|
|
B. L. Thurberg, J. T. Fallon, R. Mitchell, T. Aretz, R. E. Gordon, and M. W. O'Callaghan Cardiac Microvascular Pathology in Fabry Disease: Evaluation of Endomyocardial Biopsies Before and After Enzyme Replacement Therapy Circulation, May 19, 2009; 119(19): 2561 - 2567. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F Alpendurada, J Wong, and D J Pennell Practical applications of cardiovascular magnetic resonance Heart Asia, March 31, 2009; 2009(3): 16 - 22. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. De Cobelli, A. Esposito, E. Belloni, M. Pieroni, G. Perseghin, C. Chimenti, A. Frustaci, and A. Del Maschio Delayed-Enhanced Cardiac MRI for Differentiation of Fabry's Disease from Symmetric Hypertrophic Cardiomyopathy Am. J. Roentgenol., March 1, 2009; 192(3): W97 - W102. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Weidemann, M. Niemann, F. Breunig, S. Herrmann, M. Beer, S. Stork, W. Voelker, G. Ertl, C. Wanner, and J. Strotmann Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy: Evidence for a Better Outcome With Early Treatment Circulation, February 3, 2009; 119(4): 524 - 529. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. L. Chuang and W. J. Manning Left ventricular hypertrophy and excess cardiovascular mortality is late gadolinium enhancement the imaging link? J. Am. Coll. Cardiol., January 20, 2009; 53(3): 292 - 294. [Full Text] [PDF]
|
|
|
|
|
|
E. Belloni, F. De Cobelli, A. Esposito, R. Mellone, G. Perseghin, T. Canu, and A. Del Maschio MRI of Cardiomyopathy Am. J. Roentgenol., December 1, 2008; 191(6): 1702 - 1710. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Weidemann, C Wanner, and F. Breunig Nomen est Omen Eur J Echocardiogr, November 1, 2008; 9(6): 831 - 832. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. G Camici Coronary Microvascular Dysfunction in Patients with Cardiomyopathies Circ Heart Fail, September 1, 2008; 1(3): 150 - 152. [Full Text] [PDF]
|
|
|
|
|
|
C. Chimenti, E. Morgante, G. Tanzilli, E. Mangieri, G. Critelli, C. Gaudio, M. A. Russo, and A. Frustaci Angina in Fabry Disease Reflects Coronary Small Vessel Disease Circ Heart Fail, September 1, 2008; 1(3): 161 - 169. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. B. Joshi, W. Ahmar, G. Lee, and A. Aggarwal Fabry's disease presenting as ventricular tachycardia and Left Ventricular 'Hypertrophy' Eur J Echocardiogr, September 1, 2008; 9(5): 697 - 699. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Jerosch-Herold, D. C. Sheridan, J. D. Kushner, D. Nauman, D. Burgess, D. Dutton, R. Alharethi, D. Li, and R. E. Hershberger Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy Am J Physiol Heart Circ Physiol, September 1, 2008; 295(3): H1234 - H1242. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Chimenti, N. Hamdani, N. M. Boontje, F. DeCobelli, A. Esposito, J. G.F. Bronzwaer, G. J.M. Stienen, M. A. Russo, W. J. Paulus, A. Frustaci, et al. Myofilament Degradation and Dysfunction of Human Cardiomyocytes in Fabry Disease Am. J. Pathol., June 1, 2008; 172(6): 1482 - 1490. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Mignani, S. Feriozzi, A. Pisani, A. Cioni, C. Comotti, M. Cossu, A. Foschi, A. Giudicissi, E. Gotti, V. A. Lozupone, et al. Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy Nephrol. Dial. Transplant., May 1, 2008; 23(5): 1628 - 1635. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Germans and A. C van Rossum The use of cardiac magnetic resonance imaging to determine the aetiology of left ventricular disease and cardiomyopathy Heart, April 1, 2008; 94(4): 510 - 518. [Full Text] [PDF]
|
|
|
|
 |
|
 F. Weidemann, M. Niemann, S. Herrmann, M. Kung, S. Stork, C. Waller, M. Beer, F. Breunig, C. Wanner, W. Voelker, et al. A new echocardiographic approach for the detection of non-ischaemic fibrosis in hypertrophic myocardium Eur. Heart J., December 2, 2007; 28(24): 3020 - 3026. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. W. Hansen and N. Merchant MRI of Hypertrophic Cardiomyopathy: Part 2, Differential Diagnosis, Risk Stratification, and Posttreatment MRI Appearances Am. J. Roentgenol., December 1, 2007; 189(6): 1344 - 1352. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Linhart, C. Kampmann, J. L. Zamorano, G. Sunder-Plassmann, M. Beck, A. Mehta, P. M. Elliott, and on behalf of European FOS Investigators Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey Eur. Heart J., May 5, 2007; (2007) ehm153v1. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Linhart and P. M Elliott The heart in Anderson-Fabry disease and other lysosomal storage disorders Heart, April 1, 2007; 93(4): 528 - 535. [Full Text] [PDF]
|
|
|
|
|
|
G. P. McCann, C. T. Gan, A. M. Beek, H. W. M. Niessen, A. V. Noordegraaf, and A. C. van Rossum Extent of MRI Delayed Enhancement of Myocardial Mass Is Related to Right Ventricular Dysfunction in Pulmonary Artery Hypertension Am. J. Roentgenol., February 1, 2007; 188(2): 349 - 355. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. F. Nagueh and J. J. Mahmarian Noninvasive Cardiac Imaging in Patients With Hypertrophic Cardiomyopathy J. Am. Coll. Cardiol., December 19, 2006; 48(12): 2410 - 2422. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Hasegawa, H. Takano, S. Shindo, S. Takeda, N. Funabashi, K. Nakagawa, T. Toyozaki, Y. Kuwabara, and I. Komuro Transition From Left Ventricular Hypertrophy to Massive Fibrosis in the Cardiac Variant of Fabry Disease Circulation, April 25, 2006; 113(16): e720 - e721. [Full Text] [PDF]
|
|
|
|
|
|
M. Pieroni, C. Chimenti, F. De Cobelli, E. Morgante, A. Del Maschio, C. Gaudio, M. A. Russo, and A. Frustaci Fabry's Disease Cardiomyopathy: Echocardiographic Detection of Endomyocardial Glycosphingolipid Compartmentalization J. Am. Coll. Cardiol., April 18, 2006; 47(8): 1663 - 1671. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
O. Lidove, I. Klein, J.-D. Lelievre, P. Lavallee, J.-M. Serfaty, E. Dupuis, T. Papo, and J.-P. Laissy Imaging features of fabry disease. Am. J. Roentgenol., April 1, 2006; 186(4): 1184 - 1191. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E Perugini, C Rapezzi, T Piva, O Leone, L Bacchi-Reggiani, L Riva, F Salvi, L Lovato, A Branzi, and R Fattori Non-invasive evaluation of the myocardial substrate of cardiac amyloidosis by gadolinium cardiac magnetic resonance Heart, March 1, 2006; 92(3): 343 - 349. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P M Elliott, H Kindler, J S Shah, B Sachdev, O E Rimoldi, R Thaman, M T Tome, W J McKenna, P Lee, and P G Camici Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with {alpha} galactosidase A Heart, March 1, 2006; 92(3): 357 - 360. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Mahrholdt, A. Wagner, R. M. Judd, U. Sechtem, and R. J. Kim Delayed enhancement cardiovascular magnetic resonance assessment of non-ischaemic cardiomyopathies Eur. Heart J., August 1, 2005; 26(15): 1461 - 1474. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Tadamura, M. Yamamuro, S. Kubo, S. Kanao, T. Saga, M. Harada, M. Ohba, R. Hosokawa, T. Kimura, T. Kita, et al. Effectiveness of Delayed Enhanced MRI for Identification of Cardiac Sarcoidosis: Comparison with Radionuclide Imaging Am. J. Roentgenol., July 1, 2005; 185(1): 110 - 115. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Weidemann, F. Breunig, M. Beer, J. Sandstede, S. Stork, W. Voelker, G. Ertl, A. Knoll, C. Wanner, and J. M. Strotmann The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease Eur. Heart J., June 2, 2005; 26(12): 1221 - 1227. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J S Shah, P Lee, D Hughes, R Thaman, B Sachdev, D Pellerin, A Mehta, and P M Elliott The natural history of left ventricular systolic function in Anderson-Fabry disease Heart, April 1, 2005; 91(4): 533 - 534. [Full Text] [PDF]
|
|
|
|
|
|
C. J. Soriano, F. Ridocci, J. Estornell, J. Jimenez, V. Martinez, and J. A. De Velasco Noninvasive diagnosis of coronary artery disease in patients with heart failure and systolic dysfunction of uncertain etiology, using late gadolinium-enhanced cardiovascular magnetic resonance J. Am. Coll. Cardiol., March 1, 2005; 45(5): 743 - 748. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. M. Maceira, J. Joshi, S. K. Prasad, J. C. Moon, E. Perugini, I. Harding, M. N. Sheppard, P. A. Poole-Wilson, P. N. Hawkins, and D. J. Pennell Cardiovascular Magnetic Resonance in Cardiac Amyloidosis Circulation, January 18, 2005; 111(2): 186 - 193. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J. Pennell, U. P. Sechtem, C. B. Higgins, W. J. Manning, G. M. Pohost, F. E. Rademakers, A. C. van Rossum, L. J. Shaw, and E. K. Yucel Clinical indications for cardiovascular magnetic resonance (CMR): Consensus Panel report Eur. Heart J., November 1, 2004; 25(21): 1940 - 1965. [Full Text] [PDF]
|
|