title: Genetic risk factors of thrombophilia in ischaemic childhood stroke of cardiac origin. A prospective ESPED survey.
abstract: Ischaemic stroke is a rare event in childhood. In approximately one-fourth of cases an underlying cardiac disease can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for ischaemic stroke in children in a multicentre survey focusing on patients with a cardiac disease. 38 of 162 white infants and children (neonate-18 years) with ischaemic stroke were suffering from a cardiac disorder. An age-matched group of 100 children from the same geographic areas as the patients served as controls. Patients and controls were analysed for increased lipoprotein (a) levels > 30 mg/dl, for the presence of the factor V (FV) G1691A mutation, the prothrombin (PT) G20210 A variant, and deficiencies of protein C, protein S, and antithrombin. The following frequencies (patients vs. controls), odds ratios (OR) and confidence intervals (CI) of single risk factors were found: Lp(a) > 30 mg/dl (18.4% vs. 5%; OR/CI: 4.3/1.3-14.4; p = 0.03), FV G1691A (13.2% vs. 4%; OR/CI 3.63/0.92-14.3; p = 0.12) protein C type I deficiency (15.8% vs. 1%; OR/CI: 18.5/2.15-16.0; p = 0.0017), anticardiolipin antibodies (10.5% vs. 0%; p = 0.0051). No protein S or antithrombin deficiency was found. Combinations of haemostatic disorders were found in 10.5% of cases but in none of the controls (Fisher 0.005).
  
  
  CONCLUSIONS
  While FV G1691A and prothrombin G20210 A mutations show no significant data in our study, lipoprotein (a) levels >30 mg/dl protein C deficiency, anticardiolipin antibodies and combined prothrombotic disorders seem to be important risk factors for manifestation of ischaemic strokes in children with underlying cardiac disorders.
authors.affiliation: Paediatric Haematology and Oncology, University-Hospital, Münster. straeter@uni-muenster.de
authors.forename: R
authors.initials: R
authors.lastname: Sträter
authors.forename: H
authors.initials: H
authors.lastname: Vielhaber
authors.forename: R
authors.initials: R
authors.lastname: Kassenböhmer
authors.forename: R
authors.initials: R
authors.lastname: von Kries
authors.forename: U
authors.initials: U
authors.lastname: Göbel
authors.forename: U
authors.initials: U
authors.lastname: Nowak-Göttl
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D017153:Antibodies, Anticardiolipin / Q000097:blood; D020520:Brain Infarction / Q000097:blood / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006331:Heart Diseases / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017270:Lipoprotein(a) / Q000097:blood; D008297:Male; D016017:Odds Ratio; D015995:Prevalence; D020151:Protein C Deficiency / Q000453:epidemiology; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D018709:Statistics, Nonparametric; D019851:Thrombophilia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D017153:Antibodies, Anticardiolipin; D017270:Lipoprotein(a); D005165:Factor V; D011516:Prothrombin