Relief of Left Ventricular Outflow Obstruction by Cibenzoline in a Patient With Fabry’s Disease

Abstract

A 46-year-old man was admitted for further evaluation of exertional chest discomfort. One family member had experienced sudden death, and 2 others had died of heart failure, including 1 known to have had Fabry’s disease. The patient was also diagnosed with Fabry’s disease, based on reduced leukocyte a-galactosidase A activity, 2.0 nmol/mg protein/hour, as well as endomyocardial biopsy findings of marked sarcoplasmic vacuolization of cardiac muscle cells by light microscopy and lamellated “zebra bodies” in the cytoplasm shown by electron microscopy. Echocardiography disclosed marked left ventricular hypertrophy and systolic anterior motion of the mitral leaflets. On cardiac catheterization, a left ventricular peak systolic outflow gradient of 50 mm Hg was noted; this decreased to 10 mm Hg following intravenous administration of 100 mg of cibenzoline. It is imperative to recognize the existence of cases with Fabry’s disease associated with left ventricular outflow obstruction.

References

Grabowski GA : Lysosomal storage diseases. In: Harrison’s Principles of Internal Medicine, vol. 2. ed. 15, ed. by Braunwald E et al. New York: McGraw-Hill, 2001, pp 2276-2281.

Desnick RJ , Ioannou YA , Eng CM : a-galactosidase A deficiency. In: Fabry Disease. The Metabolic and Molecular Bases of Inherited Disease, ed. by Scriver CR et al. New York: McGraw-Hill, 1995, pp 2741-2784.

Ferrans VJ , Hibbs RG , Burda CD : The heart in Fabry’s disease. Am J Cardiol 24:95-110, 1969.

Bradbent JC , Edwards WD , Gordon H , et al : Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. Mayo Clin Proc 56:623-628, 1981.

Tanaka H , Adachi K , Yamashita Y , et al : Four cases of Fabry’s disease mimicking hypertrophic cardiomyopathy. J Cardiol 18:705-718, 1988 (in Japanese with English abstract).

Fritz P , Schneider H , Heimburg P , et al : Sekundäre hypertrophe obstruktive Kardiomyopathie bei Morbus Fabry. Med Welt 29:1851-1854, 1978.

Colucci WS , Lorell BH , Schoen FJ , et al : Hypertrophic obstructive cardiomyopathy due to Fabry’s disease. N Engl J Med 307:926-928, 1982.

Nakayama Y , Tsumura K , Yamashita N , et al : Dynamic left ventricular arterial pressure gradient and sick sinus syndrome with heterozygous Fabry’s disease improved following implantation of a dual chamber pacemaker. Pace 22:1114-1115, 1999.

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 333:288-293, 1995.

10.

Ommen SR , Nishimura RA , Edwards WD : Fabry disease: A mimic for obstructive hypertrophic cardiomyopathy? Heart 89:929-930, 2003.

11.

Shah PM , Gramiak R , Kramer DH : Ultra-sound localization of left ventricular outflow obstruction in hypertrophic obstructive cardiomyopathy. Circulation 40:3-11, 1969.

12.

Ross J Jr , Braunwald E , Gault JH , et al : The mechanism of the intraventricular pressure gradient in idiopathic hypertrophic subaortic stenosis. Circulation 34:558-578, 1966.

13.

Klues HG , Robert WC , Maron BJ , et al : Anomalous insertion of papillary muscle directly into anterior mitral leaflet in hypertrophic cardiomyopathy. Circulation 84:1188-1197, 1991.

14.

Jiang L , Levine RA , King ME , et al : An integrated mechanism for systolic anterior motion of the mitral valve in hypertrophic cardiomyopathy based on echocardiographic observations. Am Heart J 113: 633-644, 1987.

15.

Klues HG , Robert WC , Maron BJ : Morphological determinants of echocardiographic patterns of mitral valve systolic anterior motion in obstructive hypertrophic cardiomyopathy. Circulation 87:1570-1579, 1993.

16.

Levine RA , Vlahakes GJ , Lefebvre X , et al : Papillary muscle displacement causes systolic anterior motion of the mitral valve. Experimental validation and insights into the mechanism of subaortic obstruction. Circulation 91:1189-1195, 1995.

17.

Hamada M , Shigematsu Y , Ikeda S , et al : Class Ia antiarrhythmic drug cibenzoline. A new approach to the treatment of hypertrophic obstructive cardiomyopathy. Circulation 96:1520-1524, 1997.

18.

Hamada M , Shigematsu Y , Hara Y , et al : Anti-arrhythmic drug, cibenzoline, can directly improve the left ventricular diastolic function in patients with hypertrophic cardiomyopathy. Jpn Circ J 65:531-538, 2001.

19.

Maron BJ , Casey SA , Poliac LC , et al : Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA 281:650-655, 1999.

20.

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 108:1299-1301, 2003.