Fabry's Disease Cardiomyopathy. Echocardiographic Detection of Endomyocardial Glycosphingolipid Compartmentalization

Journal of the American College of Cardiology

Volumn 47, Issue 8, 2006, Pages 1663-1671

  Pieroni, Maurizio ^a   Chimenti, Cristina ^b,c   De Cobelli, Francesco ^d   Morgante, Emanuela ^b   Del Maschio, Alessandro ^d   Gaudio, Carlo ^b   Russo, Matteo Antonio ^b,e   Frustaci, Andrea ^b,c  

^a IRCCS MULTIMEDICA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c NATIONAL INSTITUTE FOR INFECTIOUS DISEASES L SPALLANZANI   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

^e IRCCS SAN RAFFAELE PISANA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSPHINGOLIPID;

ADULT; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EVALUATION; FABRY DISEASE; FEMALE; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HISTOLOGY; HUMAN; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; ADOLESCENT; AGED; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; ENDOCARDIUM; HEART MUSCLE; METABOLISM; MIDDLE AGED;

ADOLESCENT; ADULT; AGED; CARDIOMYOPATHIES; CARDIOMYOPATHY, HYPERTROPHIC; DIAGNOSIS, DIFFERENTIAL; ECHOCARDIOGRAPHY; ENDOCARDIUM; FABRY DISEASE; FEMALE; GLYCOSPHINGOLIPIDS; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; MYOCARDIUM; SENSITIVITY AND SPECIFICITY;

EID: 33646570214     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacc.2005.11.070     Document Type: Article

References (18)

1. Desnick R.J., Ioannou Y.A., and Eng C.M. α-Galactosidase A deficiency. Fabry disease. In: Scriver C.R., Beaudet A.L., and Sly W.S. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York, NY 3733-3774
2. 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 333 (1995) 288-293
3. Sachdev B., Takenaka T., Teraguchi H., et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105 (2002) 1407-1411
4. Chimenti C., Pieroni M., Morgante E., et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110 (2004) 1047-1053
5. Whybra C., Kampmann C., Willers I., et al. Anderson-Fabry disease. clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 24 (2001) 715-724
6. Eng C.M., Guffon N., Wilcox W.R., et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
7. Frustaci A., Chimenti C., Ricci R., et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 345 (2001) 25-32
8. Linthorst G.E., Vedder A.C., Aerts J.M., and Hollak C.E. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 353 (2005) 201-203
9. Pieroni M., Chimenti C., Ricci R., et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 107 (2003) 1978-1984
10. Moon J.C., Sachdev B., Elkington A.G., et al. 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
11. Nagueh S.F., Bachinski L.L., Meyer D., et al. Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. Circulation 104 (2001) 128-130
12. Moon J.C., McKenna W.J., McCrohon J.A., Elliott P.M., Smith G.C., and Pennell D.J. Toward clinical risk assessment in hypertrophic cardiomyopathy with gadolinium cardiovascular magnetic resonance. J Am Coll Cardiol 41 (2003) 1561-1567
13. Schiller N.B., Shah P.M., Crawford M., et al. Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms. J Am Soc Echocardiogr 2 (1989) 358-367
14. Allen M.N. Echocardiography. 2nd edition (1999), Lippincott Williams & Wilkins, Philadelphia, PA
15. Feigenbaum H., Armstrong W.F., and Ryan T. Echocardiography. 6th edition (2004), Lippincott Williams & Wilkins, Philadelphia, PA
16. Glass R.B., Astrin K.H., Norton K.I., et al. Fabry disease. renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr 28 (2004) 158-168
17. Maceira A.M., Joshi J., Prasad S.K., et al. Cardiovascular magnetic resonance in cardiac amyloidosis. Circulation 111 (2005) 186-193
18. Kotanko P., Kramar R., Devrnja D., et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 15 (2004) 1323-1329