Gaucher's disease with myocardial involvement in pregnancy.
BACKGROUND
Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces a heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions.


METHODS
Two pregnancies of a patient with Gaucher's disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment. In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed.
Torloni
Maria Regina
MR
Dr. Mário de Moraes Altenfeder Hospital Maternity School, São Paulo, Brazil. ginecologia@terra.com.br
Franco
Kátia
K
Sass
Nelson
N
D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology*; D002316:Cardiotonic Agents / Q000627:therapeutic use; D004077:Digoxin / Q000627:therapeutic use; D004232:Diuretics / Q000627:therapeutic use; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D006352:Heart Ventricles / Q000000981:diagnostic imaging; D006801:Humans; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology*; D014463:Ultrasonography
D002316:Cardiotonic Agents; D004232:Diuretics; D004077:Digoxin