Annals of African Medicine

: 2021  |  Volume : 20  |  Issue : 2  |  Page : 138--140

Restrictive cardiomyopathy: A rare presentation of gaucher disease

Soumi Kundu1, Malay Kumar Dasgupta1, Biswajit Majumder2, Sayan Pradhan1,  
1 Department of Pediatrics, R. G. Kar Medical College, Kolkata, West Bengal, India
2 Department of Cardiology, R. G. Kar Medical College, Kolkata, West Bengal, India

Correspondence Address:
Soumi Kundu
34H, Flat-1A, B. T. Road, Cossipore, Kolkata - 700 002, West Bengal


Restrictive cardiomyopathy is an unusual form of cardiomyopathy accounting only for 2%–5% of all pediatric cardiomyopathies. It is mostly idiopathic. Gaucher disease in association with restrictive cardiomyopathy is extremely rare. We herein report a case of cardiac failure in an 8-year-old male child caused by restrictive cardiomyopathy. Pathogenesis of which was attributed to Gaucher disease. In any case of restrictive cardiomyopathy, Gaucher disease should be included in differential diagnosis and investigated accordingly.

How to cite this article:
Kundu S, Dasgupta MK, Majumder B, Pradhan S. Restrictive cardiomyopathy: A rare presentation of gaucher disease.Ann Afr Med 2021;20:138-140

How to cite this URL:
Kundu S, Dasgupta MK, Majumder B, Pradhan S. Restrictive cardiomyopathy: A rare presentation of gaucher disease. Ann Afr Med [serial online] 2021 [cited 2023 Mar 29 ];20:138-140
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Full Text


Cardiomyopathies with restrictive physiology are rare in children.[1],[2] It may be idiopathic or associated with a systemic infiltrative disease or inborn error of metabolism (IEM). Gaucher disease is an autosomal recessive lysosomal disease with deficiency of glucocerebrosidase enzyme activity. It is a multisystem disease characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. Cardiac involvement is a very rare association in Gaucher disease. We describe a patient of Gaucher disease presenting with cardiac failure due to restrictive cardiomyopathy.

 Case Report

An 8-year-old male child with congestive heart failure presented with respiratory distress, bilateral pedal edema, and ascites.

Respiratory distress was present for the past 2.5 years with insidious onset. Dyspnea aggravated in the last 4 months. Gradual swelling of the whole body starting from feet was noted by his mother for the same duration. He had no previous febrile episodes and no family history of cardiac illness. On physical examination, his pulse rate was 112 bpm, irregular, and of low volume and blood pressure was 96/60 mmHg. Jugular venous pressure was raised with absent a wave and prominent v wave and y descent. He had mild cardiomegaly, a loud pulmonary component of S2 (P2), and a grade 3/6 pansystolic murmur, most prominent at the left parasternal area. Liver was palpable up to 7 cm below the right costal margin. There was also moderate splenomegaly (3 cm along the splenic axis).

Electrocardiography showed atrial fibrillation at the time of presentation. Laboratory investigations revealed – hemoglobin 12.6 gm% and total leukocyte count 10,800/mm3 with 75% neutrophils and platelet count 95,000/mm3. Serum electrolytes including calcium, blood glucose, and liver and renal function test were within normal limits. Antistreptolysin O titer and C-reactive protein reports were also normal. Echocardiography was done, which demonstrated biatrial enlargement, moderate mitral and tricuspid regurgitation, pulmonary regurgitation, and moderate pulmonary arterial hypertension (mean pulmonary arterial pressure 41.9). Pulse Doppler at mitral valve showed increased E velocity (E/A = 3.11, E/E' >10) [Figure 1]a. Mitral inflow variation was <25% [Figure 1]b. Hepatic venous Doppler showed inspiratory flow reversal during diastole. All these findings suggested restrictive cardiomyopathy rather than constrictive pericarditis.{Figure 1}

Patient was treated with bed-rest, diuretics, angiotensin-converting enzyme inhibitor (enalapril), and metoprolol. Gradually, the child improved respiratory distress and arrhythmia resolved after 6 days of treatment. However, hepatosplenomegaly remained of same degree and relatively low platelet count persisted.

The patient underwent bone marrow aspiration (BMA) study with the presumptive diagnosis of infiltrative disorder causing the red cell mass (RCM) and organomegaly. BMA revealed numerous Gaucher cells with hypocellular marrow (myelopoiesis: erythropoiesis = 2.5:1) [Figure 2]. Quantitative enzyme assay showed deficient beta-glucosidase enzyme activity in serum – 1.5 nmol/h/mg (normal activity >4), confirming the diagnosis of Gaucher disease.{Figure 2}

The patient was discharged in stable condition after 18 days. The boy is now referred to higher center for possible cardiac transplantation.


Restrictive cardiomyopathy is defined as a disease of cardiac muscle that results in impaired ventricular filling usually due to increased stiffness of the myocardium. RCM is characterized by diastolic dysfunction with preserved systolic function, dilated atria, and the absence of ventricular hypertrophy or dilatation.[3] The heart is structurally normal although histologic abnormalities may be found depending on the etiology. The etiology can be diverse, including amyloidosis, glycogen storage diseases, mucopolysaccharidoses, Fabry's disease, sarcoidosis, scleroderma, hemochromatosis, endomyocardial fibrosis, familial forms (some are associated with skeletal myopathy and others with neuromuscular involvement), and some forms of hypertrophic cardiomyopathy; however, the most common form is idiopathic. Therapy is mostly symptomatic; surgical options are limited to heart transplantation. Enzyme replacement therapy can be beneficial if specific enzyme deficiency can be demonstrated in some forms of storage disorders.[4]

Gaucher disease is a familial IEM. IEM accounts for only 5% of all pediatric cardiomyopathy and 15% of those with known causes, but they are of particular interest to clinicians because many have disease specific treatments.[5] Gaucher disease is one of the most common lysosomal storage disorders, characterized by hematologic abnormalities, organomegaly, and skeletal involvement. There are three clinical subtypes. The most common is Type 1 or the adult, nonneuronopathic form; Type 2 and 3 cause neurologic damages. Among them, Type 2 is the most devastating form. It has early onset of severe central nervous system involvement and death within the first 2 years of life. Type 3 or the subacute neuropathic form is the intermediate form with variable onset and progression of neuronal involvement. Another form has later been described – the cardiovascular type, which primarily affects the heart, causing the heart valves to harden (calcify).

Coexistence of Gaucher disease with restrictive cardiomyopathy is extremely rare; we were not able to find any report in the pediatric literature. However, few reports of cardiac involvement other than RCM have been published. Abrahamov et al.[6] recorded 12 Arab Gaucher disease patients, 2–20 years of age, who had calcifications of the aortic and mitral valves. Saraçlar et al.[7] reported two siblings with mitral and aortic valve thickening with significant mitral regurgitation and mitral stenosis. Erduran et al.[8] described a case of Type 3 Gaucher disease with left ventricle hypertrophy. Chabás et al.[9] reported three sisters with calcification of the ascending aorta, aortic, and mitral valves.

Hence, in our case, restrictive cardiomyopathy was the cause of heart failure, association of which with Gaucher disease has never been reported before. Patient responded well with conservative management and was discharged in stable condition. Enzyme replacement therapy now has added significantly in the treatment of Gaucher disease with bone and neurological manifestation.[10] Whether enzyme replacement therapy can have any potential role in restrictive cardiomyopathy due to Gaucher disease is a matter of interest, we were unable to explore the same due to lack of financial support.


Though rare, cardiomyopathy may represent a life-threatening presentation of Gaucher variant. In a child presenting with restrictive cardiomyopathy, we should think beyond heart not to miss any underlying systemic infiltrative disorder as specific therapy may improve the outcome and arrest further deterioration.

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Conflicts of interest

There are no conflicts of interest.


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