From: Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Reference range | |
---|---|---|---|---|---|
Age/years | 57 | 58 | 38 | 25 | |
Gender | Female | Female | Male | Male | |
Mutation | DPAGT1 | DPAGT1 | GFPT1 | GFPT1 | |
Nucleotide change |
c.349G > A c.699dup |
c.478G > A c.574G > A |
c.44C > T c.1486C > T |
c.1154G > A c.1301G > A | |
Effect on protein |
p.Val117Ile p.Thr234Hisfs*116 |
p.Gly160Ser p.Gly192Ser |
p.Thr15Met p.Arg496Trp |
p.Arg385His p.Arg434His | |
LVEDV/ml | 104 | 142 | 124 | 144 |
102-218 ml (male) 83-187 (female |
LVESV/ml | 29 | 53 | 41 | 46 |
18-82 ml (male) 18-66 ml (female) |
LVEF | 72 | 63 | 67 | 68 |
57-81% (male and female) |
RVEF | 75 | 64 | 66 | 70 |
47-71% (male) 53-73% (female) |
LV mass/g | 120 | 115 | 134 | 124 |
81-165 g (male) 42-150 g (female) |
LGE regions | Anterior septum and inferior LV/RV junction | Basal inferolateral wall | Basal inferolateral wall | Inferior and inferolateral wall | |
LGE > 5SD/% | 1.6 | 2.3 | 5.1 | 3.9 | |
Stress perfusion CMR (visual assessment) | Normal | Not performed | Normal | Normal | |
PCr/ATP ratio | 1.19 | 1.01 | 2.23 | 2.25 | |
Diastolic function | Grade 1 dysfunction | Grade 2 dysfunction | Grade 1 dysfunction | Normal |