Heart Valve Involvement in Fabry Cardiomyopathy

Ultrasound in Medicine and Biology

Volumn 35, Issue 5, 2009, Pages 730-735

  Weidemann, Frank ^a   Strotmann, Joerg M ^a   Niemann, Markus ^a   Herrmann, Sebastian ^a   Wilke, Mario ^a   Beer, Meinrad ^b   Voelker, Wolfram ^a   Ertl, Georg ^a   Emmert, Andrea ^a   Wanner, Christoph ^a   Breunig, Frank ^a  

^a Department of Internal Medicine/Centres of Rare Diseases and Cardiovascular Medicine ^*  (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Cardiomyopathy; Fabry; Heart valves

Indexed keywords

AORTIC STENOSIS; AORTIC VALVE STENOSIS; CARDIOMYOPATHY; FABRY; FABRY DISEASE; GLYCOSPHINGOLIPIDS; HEART VALVES; LEFT VENTRICULAR; LYSOSOMAL STORAGE DISORDERS; MITRAL REGURGITATIONS; MITRAL VALVES; OBSERVATIONAL STUDIES; TRICUSPID VALVES;

BLOOD VESSELS; DIMENSIONAL STABILITY; ECHOCARDIOGRAPHY; HYDRODYNAMICS;

VALVES (MECHANICAL);

ADULT; AORTA VALVE; ARTICLE; CARDIOMYOPATHY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FABRY DISEASE; FEMALE; HEART VALVE STENOSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MITRAL VALVE; PRIORITY JOURNAL; PULMONARY VALVE; TRICUSPID VALVE; VALVULAR HEART DISEASE;

ADULT; AORTIC VALVE INSUFFICIENCY; DISEASE PROGRESSION; ECHOCARDIOGRAPHY, DOPPLER; FABRY DISEASE; FEMALE; FOLLOW-UP STUDIES; HEART VALVE DISEASES; HUMANS; MALE; MIDDLE AGED; MITRAL VALVE INSUFFICIENCY; TRICUSPID VALVE INSUFFICIENCY; YOUNG ADULT;

EID: 67349257183     PISSN: 03015629     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ultrasmedbio.2008.10.010     Document Type: Article

References (18)

1. Desnick R.J., Brady R., Barranger J., Collins A.J., Germain D.P., Goldman M., Grabowski G., Packman S., and Wilcox W.R. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003) 338-346
2. Eng C.M., Germain D.P., Banikazemi M., Warnock D.G., Wanner C., Hopkin R.J., Bultas J., Lee P., Sims K., Brodie S.E., Pastores G.M., Strotmann J.M., and Wilcox W.R. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8 (2006) 539-548
3. Kalliokoski R.J., Kalliokoski K.K., Penttinen M., Kantola I., Leino A., Viikari J.S., Simell O., Nuutila P., and Raitakari O.T. Structural and functional changes in peripheral vasculature of Fabry patients. J Inherit Metab Dis 29 (2006) 660-666
4. Kalliokoski R.J., Kalliokoski K.K., Sundell J., Engblom E., Penttinen M., Kantola I., Raitakari O.T., Knuuti J., and Nuutila P. Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 28 (2005) 563-573
5. Kampmann C., Baehner F., Whybra C., Martin C., Wiethoff C.M., Ries M., Gal A., and Beck M. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 40 (2002) 1668-1674
6. Lange P.E., Onnasch D.G., and Heintzen P.H. Cardiac hypertrophy in the developing heart. J Cardiovasc Pharmacol 10 Suppl 6 (1987) S62-S70
7. Linhart A., and Elliott P.M. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93 (2007) 528-535
8. Linhart A., Kampmann C., Zamorano J.L., Sunder-Plassmann G., Beck M., Mehta A., and Elliott P.M. Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey. Eur Heart J 28 (2007) 1228-1235
9. Linhart A., Lubanda J.C., Palecek T., Bultas J., Karetova D., Ledvinova J., Elleder M., and Aschermann M. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 24 Suppl 2 (2001) 75-83 discussion 65
10. Mehta A., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., Linhart A., Sunder-Plassmann G., Ries M., and Beck M. Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 (2004) 236-242
11. Moon J.C., Sachdev B., Elkington A.G., McKenna W.J., Mehta A., Pennell D.J., Leed P.J., and Elliott P.M. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 24 (2003) 2151-2155
12. Pieroni M., Chimenti C., Ricci R., Sale P., Russo M.A., and Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 107 (2003) 1978-1984
13. Senechal M., and Germain D.P. Fabry disease: A functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clin Genet 63 (2003) 46-52
14. Shah J.S., Hughes D.A., Sachdev B., Tome M., Ward D., Lee P., Mehta A.B., and Elliott P.M. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 96 (2005) 842-846
15. Shah J.S., Hughes D.A., Tayebjee M.H., MacFadyen R.J., Mehta A.B., and Elliott P.M. Extracellular matrix turnover and disease severity in Anderson-Fabry disease. J Inherit Metab Dis 30 (2007) 88-95
16. Weidemann F., Breunig F., Beer M., Sandstede J., Stork S., Voelker W., Ertl G., Knoll A., Wanner C., and Strotmann J.M. The variation of morphological and functional cardiac manifestation in Fabry disease: Potential implications for the time course of the disease. Eur Heart J 26 (2005) 1221-1227
17. Weidemann F., Breunig F., Beer M., Sandstede J., Turschner O., Voelker W., Ertl G., Knoll A., Wanner C., and Strotmann J.M. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study. Circulation 108 (2003) 1299-1301
18. Zoghbi W.A., Enriquez-Sarano M., Foster E., Grayburn P.A., Kraft C.D., Levine R.A., Nihoyannopoulos P., Otto C.M., Quinones M.A., Rakowski H., Stewart W.J., Waggoner A., and Weissman N.J. Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and Doppler echocardiography. J Am Soc Echocardiogr 16 (2003) 777-802