Annals of African Medicine
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Year : 2021  |  Volume : 20  |  Issue : 2  |  Page : 138-140  

Restrictive cardiomyopathy: A rare presentation of gaucher disease

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

Date of Submission25-Dec-2018
Date of Acceptance25-Aug-2019
Date of Web Publication30-Jun-2021

Correspondence Address:
Soumi Kundu
34H, Flat-1A, B. T. Road, Cossipore, Kolkata - 700 002, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aam.aam_64_18

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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.

   Abstract in French 

La cardiomyopathie restrictive est une forme inhabituelle de cardiomyopathie qui ne représente que 2 à 5 % de toutes les cardiomyopathies pédiatriques. C'est surtout idiopathique. La maladie de Gaucher associée à une cardiomyopathie restrictive est extrêmement rare. Nous rapportons ici un cas d'insuffisance cardiaque dans un Enfant de sexe masculin de 8 ans causé par une cardiomyopathie restrictive. dont la pathogenèse a été attribuée à la maladie de Gaucher. En tout cas de restriction cardiomyopathie, la maladie de Gaucher doivent être incluses dans le diagnostic différentiel et étudiées en conséquence.

Keywords: Enzyme replacement therapy, heart failure, restrictive cardiomyopathy, storage disease

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;20:138-40

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];20:138-40. Available from:

   Introduction Top

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 Top

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: Echocardiographic features suggestive of restrictive cardiomyopathy, (a) pulse Doppler at mitral valve showed increased E velocity (E/A = 3.11, E/E' >10), (b) mitral inflow variation <25%

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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: Bone marrow aspiration revealed focal accumulation of large cells (arrow) with granular or fibrillar distended cytoplasm, characteristic “wrinkled tissue paper” appearance, and eccentric nuclei suggestive of Gaucher cells (Leishman–Giemsa, ×400)

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

   Discussion Top

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.

   Conclusion Top

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.

   References Top

Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;348:1639-46.  Back to cited text no. 1
Lipshultz SE, Sleeper LA, Towbin JA, Lowe AM, Orav EJ, Cox GF, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003;348:1647-55.  Back to cited text no. 2
Kimberling MT, Balzer DT, Hirsch R, Mendeloff E, Huddleston CB, Canter CE, et al. Cardiac transplantation for pediatric restrictive cardiomyopathy: Presentation, evaluation, and short-term outcome. J Heart Lung Transplant 2002;21:455-9.  Back to cited text no. 3
Pastores GM. Therapeutic approaches for lysosomal storage diseases. Ther Adv Endocrinol Metab 2010;1:177-88.  Back to cited text no. 4
Cox GF. Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007;24:15-25.  Back to cited text no. 5
Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, et al. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 1995;346:1000-3.  Back to cited text no. 6
Saraçlar M, Atalay S, Koçak N, Ozkutlu S. Gaucher's disease with mitral and aortic involvement: Echocardiographic findings. Pediatr Cardiol 1992;13:56-8.  Back to cited text no. 7
Erduran E, Mocan H, Gedik Y, Kamaci R, Okten A, Değer O, et al. Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency. Genet Couns 1995;6:211-5.  Back to cited text no. 8
Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, et al. Unusual expression of gaucher's disease: Cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet 1995;32:740-2.  Back to cited text no. 9
Ceravolo F, Grisolia M, Sestito S, Falvo F, Moricca MT, Concolino D, et al. Combination therapy in a patient with chronic neuronopathic gaucher disease: A case report. J Med Case Rep 2017;11:19.  Back to cited text no. 10


  [Figure 1], [Figure 2]


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