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

J. Hoefer; W. Streif; J. Kilo; M. Grimm; G. Berger; C. Velik-Salchner

doi:10.1055/s-0032-1321875

Klin Padiatr 2012; 224(06): 382-385
DOI: 10.1055/s-0032-1321875

Case Report

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

Korrektur eines zyanotischen Herzfehlers bei einem 11-jährigen Jungen mit thrombozytopenischer Thrombozytopathie und schwerer Anämie bei GATA-1 Transkriptionsdefekt: hämostatische Behandlung

J. Hoefer

¹Innsbruck Medical University, Anesthesiology and Intensive Care Medicine, Innsbruck, Austria

,

W. Streif

²Innsbruck Medical University, Paediatrics, Innsbruck, Austria

,

J. Kilo

³Innsbruck Medical University, Cardiac Surgery, Innsbruck, Austria

,

M. Grimm

³Innsbruck Medical University, Cardiac Surgery, Innsbruck, Austria

,

G. Berger

²Innsbruck Medical University, Paediatrics, Innsbruck, Austria

,

C. Velik-Salchner

¹Innsbruck Medical University, Anesthesiology and Intensive Care Medicine, Innsbruck, Austria

› Author Affiliations

Abstract

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.

Zusammenfassung

Ein Kind wurde zur Korrektur eines angeborenen Ventrikel-Septum-Defekts (VSD) mit erheblichem Rechts-links Shunt und hochgradiger Stenose des rechtsventrikulären Ausflusstrakts (Fallot’schen Tetralogie) an unserer Klinik vorstellig. Eine bekannte schwere kongenitale Anämie (Hb 72 g/L), Thrombozytopenie (42×G/L), sowie ausgeprägte Thrombozytenfunktionsstörung führten zur Verdachtsdiagnose eines Stammzelldefektes. In der Folge konnte eine GATA-1 Mutation diagnostiziert werden. Im Rahmen dieses Defektes können Interventionen zu lebensbedrohlichen Blutungen führen oder ein partielles oder völliges Versagen des Knochenmarkes auslösen. Anheben der Thrombozytenzahl auf 100 G/L und Aufrechterhalten einer maximalen Gerinnselfestigkeit von 50 mm (EXTEM-MCF) ermöglichte die Korrektur des zyanotischen Herzfehlers ohne Komplikationen. Anämie und Thrombozytopenie persistierten nach dem herzchirugischen Eingriff, wobei sich die spontane Blutungsneigung deutlich besserte.

Key words

congenital heart surgery - GATA-1 defect - dyserythropoietic anemia - thrombocytopenia - thrombocytopathy

Full Text

References

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