Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations

Table 1

	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

Baseline characteristics and CMR and echo indices including left ventricular end diastolic volume (LVEDV), left ventricular end systolic volume (LVESV), left ventricular ejection fraction (LVEF), right ventricular ejection fraction (RVEF), late gadolinium enhancement (LGE) and phosphocreatine to adenosine triphosphate ratio (PCrR/ATP).

ISSN: 1532-429X