No of cases/variants | Ischaemic | Haemorrhagic | Total | |
No of cases | Mutation detected | 13 | 2 | 15 |
Mutation undetected* | 34 | 4 | 38 | |
Mutation detected (%) | 27.66% | 33.33% | 28.30% | |
Likely pathogenic mutation | No of cases (%) | 3 (6.38%) | 1 (16.67%) | 4 (7.55%) |
No of mutations | 3 | 1 | 4 | |
No of genes | 3 | 1 | 3 | |
Genes | NOTCH3, ABCC6, LDLR | ABCC6 | / | |
VUS | No of cases (%) | 10 (21.28%) | 1 (16.67%) | 11 (20.75%) |
No of mutations | 11 | 1 | 12 | |
No of genes | 9† | 1 | 10 | |
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.