Table 3.

Cardiac MRI results of eleven family members with or without the DSP c.2493delA p.(Glu831Aspfs*33) mutation

			Left ventricle				Right ventricle
ID	DSP c.2493delA p.(Glu831Aspfs*33)	Age (M/F)	EF (%)	EDV (ml)	EDV / BSA (ml/m2)	SV (ml)	EF (%)	EDV (ml)	EDV / BSA (ml/m2)	SV (ml)	Trabeculation	LGE
Index IV:12	+	25F	62	210	92	131	73	177	78	129	−	subepicardial
IV:10	+	38F	38	208	114	79	68	112	62	76	+	subepicardial
IV:11	+	32 M	33	420	203	137	61	223	108	135	+	subepicardial
III:7	+	66F	34	223	129	76	62	122	71	75	+	transmural
III:6	+	50F	60	160	94	96	65	150	88	98	−	no
IV:8	+	23F	66	156	87	103	63	159	89	100	−	subepicardial
III:5	+	54F	69	146	75	100	67	151	78	101	−	no
III:10	−	59F	60	150	80	90	69	129	69	89	−	no
IV:3	−	32F	57	128	61	72	51	140	67	72	−	no
IV:4	−	34F	58	161	84	94	61	152	78	92	−	no
IV:2	−	19 M	62	197	82	121	61	197	82	121	−	no

Symbols and abbreviations: MRI, magnetic resonance image; genotype +, heterozygous for DSP c.2493delA p.(Glu831Aspfs*33); − wild type allele.

NA, not available; age (M/F), age at evaluation; M, male; F, female; EF, ejection fraction (%); EDV, end diastolic volume (ml); EDV / BSA, end diastolic volume normalized to body surface area (ml/m²); SV, systolic volume (ml); Trabeculation +, pathogenic trabeculation fulfilling LVNC criteria; Trabeculation ‐, no pathologic trabeculation; LGE, late gadolinium enhancement.