Correspondence

Cardiac Response to Enzyme-Replacement Therapy in Gaucher's Disease

N Engl J Med 1998; 339:1165-1166October 15, 1998

Article

To the Editor:

Gaucher's disease is the most common lysosomal-storage disorder. It is caused by a deficiency of glucocerebrosidase, which results in an accumulation of glucosylceramide in abdominal organs and bone, sometimes in the nervous system, and in rare cases, in the heart. We describe a patient with Gaucher's disease involving the heart in whom therapy with glucocerebroside (alglucerase) was beneficial.

The patient was found to have Gaucher's disease at the age of six years, at which time splenectomy was performed because of massive splenomegaly and thrombocytopenia. She subsequently had progressive hepatomegaly and bone pain. At the age of 16 years, she had exertional and nocturnal dyspnea and fatigue. Physical examination revealed a third heart sound. A chest film showed mild cardiac enlargement and normal lungs. Echocardiography showed an increase in the volume of the left ventricle during diastole and impaired systolic and diastolic function. Electrocardiography revealed sinus tachycardia (123 beats per minute) and deep T-wave inversion in the left precordial leads.

The patient was treated with digitalis and diuretics, with symptomatic improvement. Intravenous replacement therapy with alglucerase (30 IU per kilogram of body weight every two weeks) was then started. Within months, the T-wave inversions had disappeared, the diastolic volume of the left ventricle had decreased, and diastolic function had increased. Three years later, while receiving alglucerase in a dose of 20 IU per kilogram per month, the patient had no cardiac symptoms, and the findings on an echocardiogram were nearly normal. Her hepatic volume had decreased by about 30 percent, and her bone pain had disappeared.

Cardiac involvement in patients with Gaucher's disease is uncommon. Pericardial effusion resulting in constrictive pericarditis,1 valvular calcifications,2 and focal infiltrations of Gaucher's cells in the ventricular myocardium3,4 have been reported. Although myocardial biopsy was not performed in our patient, she probably had the third type of cardiac involvement.

Marco Spada, M.D., Ph.D.
University of Turin

Enrico Chiappa, M.D.
Regina Margherita Children's Hospital

Alberto Ponzone, M.D.
University of Turin, 10126 Turin, Italy

4 References

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   Edwards WD, Hurdey HP III, Partin JR. Cardiac involvement by Gaucher's disease documented by right ventricular endomyocardial biopsy. Am J Cardiol 1983;52:654-654
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   Smith RL, Hutchins GM, Sack GH Jr, Ridolfi RL. Unusual cardiac, renal and pulmonary involvement in Gaucher's disease: interstitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med 1978;65:352-360
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Citing Articles (4)

Citing Articles

1. 1

   Xavier Solanich, Eduard Claver, Francesc Carreras, Pilar Giraldo, Antoni Vidaller, Río Aguilar, Àngel Cequier. (2011) Myocardial infiltration in Gaucher's disease detected by cardiac MRI. International Journal of Cardiology
   CrossRef

2. 2

   Pascal Guggenbuhl, Bernard Grosbois, Gérard Chalès. (2008) Gaucher disease. Joint Bone Spine 75:2, 116-124
   CrossRef

3. 3

   Pascal Guggenbuhl, Bernard Grosbois, Gérard Chalès. (2008) La maladie de Gaucher. Revue du Rhumatisme 75:3, 198-206
   CrossRef

4. 4

   L. Almenar Bonet, E. Zorio Grima. (2005) Miocardiopatías restrictivas. Medicine - Programa de Formación Médica Continuada Acreditado 9:42, 2775-2789
   CrossRef