Gaucher's disease with myocardial involvement in pregnancy

Sao Paulo Medical Journal

Maria Regina Torloni¹  Kátia Franco¹  Nelson Sass¹ 

[1] ,Dr. Mário de Moraes Altenfeder Hospital Maternity School São Paulo ,Brazil

关键词: Gaucher's disease;    Pregnancy;    Myocardial involvement;    Heart failure;    Doença de Gaucher;    Gravidez;    Miocardiopatia;    Insuficiência cardíaca;   

DOI  :  10.1590/S1516-31802002000300008

来源: SciELO

【 摘 要 】

CONTEXT: 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. CASE REPORT: 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.

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