Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy.
A child was admitted to our hospital for repair of a ventricular septal defect (VSD) characterized by a predominantly right-to-left shunt and a severe stenosis of the right ventricular outflow tract (Tetralogy of Fallot). Severe congenital anemia (hemoglobin 72 g/L), thrombocytopenia (42×G/L) and profound platelet dysfunction led a stem cell defect to be suspected. X-linked thrombocytopenia (GATA-1 mutation) was diagnosed. GATA-1 defect may complicate medical interventions due to excessive bleeding and partial or complete bone marrow failure. Maintaining a platelet count of 100 G/L and a maximal clot firmness (EXTEM-MCF) >50 mm allowed repair of the congenital heart defect without bleeding or hematological complications. Anemia and thrombocytopenia persisted after cardiac surgery, while the spontaneous bleeding tendency improved.
Innsbruck Medical University, Anesthesiology and Intensive Care Medicine, Innsbruck, Austria.
J
J
Hoefer
W
W
Streif
J
J
Kilo
M
M
Grimm
G
G
Berger
C
C
Velik-Salchner
D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000235:genetics*; D001317:Austria; D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D005500:Follow-Up Studies; D050982:GATA1 Transcription Factor / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000235:genetics*; D006488:Hemostasis, Surgical / Q000379:methods; D006801:Humans; D008297:Male; D057193:Medical Tourism; D009339:Needles; D010979:Platelet Function Tests; D011182:Postoperative Care; D013771:Tetralogy of Fallot / Q000150:complications* / Q000235:genetics* / Q000601:surgery*; D013921:Thrombocytopenia / Q000150:complications* / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics*
D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human