Fabry disease: Percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male

Echocardiography

Volumn 22, Issue 4, 2005, Pages 333-339

  Magage, Sudheera ^a   Linhart, Ales ^a   Bultas, Jan ^a   Vojacek, Jan ^a   Mates, Martin ^a   Palecek, Tomas ^a   Popelová, Jana ^a   Tintera, Jaroslav ^b   Aschermann, Michael ^a   Goldman, Martin E ^c   Desnick, Robert J ^c  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

galactosidase A deficiency; Alcohol induced percutaneous transluminal septal myocardial ablation; Fabry disease; Left ventricular hypertrophy

Indexed keywords

ADULT; ANGINA PECTORIS; ARTICLE; CASE REPORT; DISEASE CLASSIFICATION; FABRY DISEASE; FOLLOW UP; HEART LEFT VENTRICLE HYPERTROPHY; HEART OUTFLOW TRACT OBSTRUCTION; HUMAN; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; MALE; NONSURGICAL INVASIVE THERAPY; PERCUTANEOUS TRANSLUMINAL SEPTUM MYOCARDIAL ABLATION; PRIORITY JOURNAL;

CATHETER ABLATION; ECHOCARDIOGRAPHY, DOPPLER, COLOR; FABRY DISEASE; FOLLOW-UP STUDIES; HEART CATHETERIZATION; HEART FUNCTION TESTS; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; VENTRICULAR OUTFLOW OBSTRUCTION;

EID: 20244386865     PISSN: 07422822     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1540-8175.2005.03191.x     Document Type: Article

References (24)

1. Desnick RJ, Ioannou YA, Eng CM: α-Galactosidase A deficiency: Fabry disease In Scriver CR, Beaudet AL, Sly WS et al: (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 2001, p. 3733-3774.
2. MacDermot KD, Holmes A, Miners AH: Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-760.
3. Mehta J, Tuna N, Moller JH, et al: Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. Am Heart J 1977;93:699-705.
4. Goldman ME, Cantor R, Schwartz MF, et al: Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol 1986;7:1157-1161.
5. Elleder M, Bradova V, Smid F, et al: 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 1990;417:449-455.
6. von Scheidt W, Eng CM, Fitzmaurice TF, et al: An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991;324:395-399.
7. 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 1995;333:288-293.
8. Sachdev B, Takenaka T, Teraguchi H, et al: Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-1411.
9. Eng CM, Guffon N, Wilcox WR, et al: Safety and efficacy of recombinant human α-galactosidase. A replacement therapy in Fabry's disease. N Eng J Med 2001;345:9-16.
10. Schiffmann R, Kopp JB, Austin HA, 3rd, et al: Enzyme replacement therapy in Fabry disease: A randomized controlled trial. J Am Med Assoc 2001;285:2743-2749.
11. Wilcox WR, Banikazemi M, Guffon N, et al: Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75:65-74.
12. Waldek S: PR interval and the response to enzyme-replacement therapy for Fabry's disease. N Engl J Med 2003;348:1186-1187.
13. 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;108:1299-1301.
14. Desnick RJ, Brady R, Barranger J, et al: Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-346.
15. Maron MS, Olivotto I, Betocchi S, et al: Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. N Engl J Med 2003;348:295-303.
16. Sigwart U: Non-surgical myocardial reduction for hypertrophic obstructive cardiomyopathy. Lancet 1995;346:211-214.
17. Kuhn H, Gietzen FH, Leuner C, et al: Transcoronary ablation of septal hypertrophy (TASH): A new treatment option for hypertrophic obstructive cardiomyopathy. Z Kardiol 2000;89(Suppl 4):IV41-IV54.
18. Qin JX, Shiota T, Lever HM, et al: Outcome of patients with hypertrophic obstructive cardiomyopathy after percutaneous transluminal septal myocardial ablation and septal myectomy surgery. J Am Coll Cardiol 2001;38:1994-2000.
19. Nagueh SF, Ommen SR, Lakkis NM, et al: Comparison of ethanol septal reduction therapy with surgical myectomy for the treatment of hypertrophic obstructive cardiomyopathy. J Am Coll Cardiol 2001;38:1701-1706.
20. Desnick RJ, Blieden LC, Sharp HL, et al: Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 1976;54:818-825.
21. Linhart A, Palecek T, Bultas J, et al: New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 2000;139:1101-1108.
22. Ioannou YA, Zeidner KM, Gordon RE, et al: Fabry disease: Preclinical studies demonstrate the effectiveness of α-galactosidase. A replacement in enzyme-deficient mice. Am J Hum Genet 2001;68:14-25.
23. Eng CM, Banikazemi M, Gordon R, et al: A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001;68:711-722.
24. Linhart A, Lubanda JC, Palecek T, et al: Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24 (Suppl 2):75-83.