Intravascular ultrasound assessment of coronary artery involvement in Fabry disease

Journal of Inherited Metabolic Disease

Volumn 31, Issue 6, 2008, Pages 753-760

  Kovarnik, T ^a,d   Mintz, G S ^b   Karetova, D ^a   Horak, J ^a   Bultas, J ^a   Skulec, R ^a   Skalicka, H ^a   Aschermann, M ^a   Elleder, M ^c   Linhart, A ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b CARDIOVASCULAR RESEARCH FOUNDATION   (United States)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^d CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSPHINGOLIPID; LIPID;

ADULT; ANGIOCARDIOGRAPHY; ARTICLE; ATHEROSCLEROTIC PLAQUE; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CORONARY ARTERY OBSTRUCTION; CORONARY ARTERY SURGERY; CORONARY STENT; ENDOTHELIUM CELL; FABRY DISEASE; FEMALE; HUMAN; IMAGE ANALYSIS; INTRAVASCULAR ULTRASOUND; LIPID ANALYSIS; MALE; MUSCLE LEVEL; SMOOTH MUSCLE; THORAX PAIN;

AGED; CASE-CONTROL STUDIES; CORONARY ANGIOGRAPHY; CORONARY ARTERY DISEASE; CORONARY VESSELS; ENDOTHELIUM, VASCULAR; FABRY DISEASE; FEMALE; FIBROBLASTS; HUMANS; MALE; MIDDLE AGED; TRIHEXOSYLCERAMIDES;

EID: 57649176793     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0794-0     Document Type: Article

References (31)

1. Aerts JM, Groenr JE, Kuiper S, et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 105: 2812-2817.
2. Altarescu G, Moore DF, Pursley R, et al (2001) Enhanced endothelium-dependent vasodilatation in Fabry disease. Stroke 32: 1559-1562.
3. Barbey F, Brakch N, Linhart A, et al (2006a) Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl 95: 63-68. doi: 10.1080/08035320600618924.
4. Barbey F, Brakch N, Linhart A, et al (2006b) Cardiac and vascular hypertrophy in Fabry disease. Evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 26: 839-844. doi: 10.1161/01.ATV.0000209649.60409.38.
5. Boutouyrie P, Laurent S, Laloux B, Lidove O, Grunfeld JP, Germain DP (2001) Non-invasive evaluation of arterial involvement in patients affected with Fabry disease. J Med Genet 38: 629-631. doi: 10.1136/ jmg.38.9.629.
6. Clarke JT, Stolz JM, Garner JB (1980) Stability of plasma low density lipoprotein with abnormal glycolipid composition from patients with Fabry's disease. Atherosclerosis 35: 155-163. doi: 10.1016/ 0021-9150(80)90081-7.
7. Dobrovolny R, Dvorakova L, Ledvinova J, et al (2005) Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med 83: 647-654. doi: 10.1007/ s00109-005-0656-2.
8. Elleder M (2003) Sequelae of storage in fabry disease - pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 443: 46-53.
9. Elleder M, Bradová V, Smíd F, et al (1990) Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417: 449-455. doi: 10.1007/ BF01606034.
10. Elliott PM, Kindler H, Shah JS, et al (2006) Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase. Heart 92: 357-360. doi: 10.1136/ hrt.2004.054015.
11. Ficher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME (1992) Fabry disease: An unusual cause of severe coronary disease in a young man. Ann Intern Med 117: 221-223.
12. Heltianu C, Costache G, Azibi K, Poenaru L, Simionescu M (2002) Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease. Clin Genet 61: 423-429. doi: 10.1034/j.1399-0004.2002.610605.x.
13. Ho̊lková H, Ledvinová J, Poupětová H, Bultas J, Zeman J, Elleder M (2000) [Postmortem diagnosis of fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]. Cas Lek Cesk 138: 660-664.
14. Kalliokoski RJ, Kalliokoski KK, Sundell J, et al (2005) Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 28: 563-573. doi: 10.1007/s10545-005-0563-2.
15. Kalliokoski RJ, Kantola I, Kalliokoski KK, et al (2006) The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis 29: 112-118. doi: 10.1007/ s10545-006-0221-3.
16. Kanda A, Nakao S, Tsuyama S, Murata F, Kanzaki T (2000) Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits. Virchows Arch 436: 36-42. doi: 10.1007/PL00008196.
17. Kleinert J, Dehout F, Schwarting A, et al (2006) Prevalence of uncontrolled hypertension in patients with fabry disease. Am J Hypertens 19: 782-787. doi: 10.1016/j.amjhyper.2006.01.011.
18. Kovarnik T, Reznícek V, Novackova K, Horak J, Simek S, Aschermann M (2003) TREASURE study: IntRavascular ultRasound Evaluation of Atherosclerosis regreSsion Using atoRvastatin thErapy. Am J Cardiol 92 (Suppl.197L). [Abstract].
19. Linhart A, Lubanda J-C, Palecek T, et al (2001) Cardiac manifestations in Fabry disease. J Inherit Metab Dis 24 (Suppl 2): 75-83. doi: 10.1023/ A:1012428009627.
20. Linhart A, Kampmann C, Zamorano JL, et al (2007) Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey. Eur Heart J 28: 1228-1235. doi: 10.1093/eurheartj/ehm153.
21. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38: 750-760. doi: 10.1136/jmg.38.11.750.
22. Mintz GS, Nissen S (2001) American College of Cardiology Clinical Expert Consensus Document on Standards for Aquisition, Measurement and Reporting of Intravascular Ultrasound Studies (IVUS) A report of the American College of Cardiology Task Force on Clinical Expert Consensus Documents. J Am Coll Cardiol 37: 1478-1492. doi: 10.1016/ S0735-1097(01)01175-5.
23. Moore DF, Scott LT, Gladwin MT, et al (2001) Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104: 1506-1512. doi: 10.1161/hc3801.096352.
24. Moore DF, Altarescu G, Ling GS, et al (2002) Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33: 525-531.
25. Moore DF, Ye F, Brennan ML, et al (2004) Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality - an arterial spin tagging study. J Magn Reson Imaging 20: 674-683. doi: 10.1002/jmri.20162.
26. Ogawa T, Kawai M, Matsui T, et al (1996) Vasospastic angina in a patient with Fabry's disease who showed normal coronary angiographic findings. Jpn Circ J 60: 315-318. doi: 10.1253/jcj.60.315.
27. Rasheed Q, Nair R, Sheehan H, McB Hodgson J (1994) Correlation of intracoronary ultrasound plaque characteristics in atherosclerotic coronary artery disease patients with clinical variables. Am J Cardiol 73: 753-758. doi: 10.1016/0002-9149(94)90876-1.
28. Shah JS, Hughes DA, Sachdev B, et al (2005) Prevalence and clinical significance of cardiac arrhythmias in Anderson-Fabry disease. Am J Cardiol 96: 842-846. doi: 10.1016/j.amjcard.2005.05.033.
29. Schiffmann R, Rapkiewitz A, Abu-Asab M, et al (2006) Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch 448: 337-343. doi: 10.1007/ s00428-005-0089-x.
30. Shirai T, Ohtake T, Kimura M, et al (2000) Atypical Fabry's disease presenting with cholesterol crystal embolization. Intern Med 39: 646-649.
31. von Scheidt W, Eng CM, Fitzmaurice TF, et al (1991) An atypical variant of Fabry's disease with manifestation confined to the myocardium. N Engl J Med 324: 395-399.