Study of cardiac abnormalities in children with Gaucher disease

ABSTRACT

Gaucher disease is the most prevalent lysosomal storage disease which results from inherited deficiency in the glucocerebrosidase enzyme. Three main clinical forms have been described, type I non-neurophatic, type II acute neuropathic and type III subacute neuropathic [1]. In this study, we present specific characteristics, as well as our experience in diagnosing the cardiac abnormalities in a group of Egyptian patients with this disease. The study included 22 patients with Gaucher disease attending Children's Hospital, Alexandria University. The recombinant enzyme imiglucerase [cerezyme] was given in a dose of 60 IU/kg/2 weeks [2]. Hemoglobin, plasma chitotriosidase and abdominal ultrasound were assessed before starting therapy and every 6 months. Molecular analysis was done to 17 patients. At presentation, the mean age was 7.94 +/- 6.26 years. 6 patients [27.2%] had type I, 16 patients had type III Gaucher disease [72.7%]. The commonest genotype was homozygous L444P which was present in 11 patients [50%] followed by homozygous D409H found in three patients [13.6%]. Gaucher's disease leads to deposition of glucocerebrosides in various organs. Recently, type IIIC Gaucher's disease, homozygous for the D409H mutation, has been identified; this is an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves[3]. In this study the cardiac evaluation through clinical examination and investigations of the cases revealed that [50%] had positive cardiac findings: