Table 3

Summary of the genetic test results of 53 probands analysed in March 2020

No of cases/variantsIschaemicHaemorrhagicTotal
No of casesMutation detected13215
Mutation undetected*34438
Mutation detected (%)27.66%33.33%28.30%
Likely pathogenic mutationNo of cases (%)3 (6.38%)1 (16.67%)4 (7.55%)
No of mutations314
No of genes313
Genes NOTCH3, ABCC6, LDLR ABCC6 /
VUSNo of cases (%)10 (21.28%)1 (16.67%)11 (20.75%)
No of mutations11112
No of genes9†110
Genes NOTCH3, PKD1, MYH9, SERPIND1, FBN1, RYR1, VWF, SCN5A, MTHFR KRIT1 /
  • *Genetic variants that were of pathogenic/likely pathogenic/VUS grade were not detected in these patients in the targeted regions.

  • VWF and PKD1 both appear twice.

  • VUS, variants of uncertain significance.