A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations

Table 2

Electrocardiographic, echocardiographic, and biomarker findings.

Features at examinations	Family A				Family B
	I:1	II:1	II:2	II:3	I:2	II:1	II:2
Latest ECG
LV hypertrophy	+	+	+	+	+ (initial ECG)	+ (initial ECG)	+
Preexcitation	+	+	+	+	+ (initial ECG)	+ (initial ECG)	+
WPW	+	+	+	+	+ (initial ECG)	− (initial ECG)	+
Pacemaker/ICD					+	+
Initial echocardiography
EF (%)	60–65	61	—	50	76.8	75	73.4
FS (%)	—	42		20.5	36.4	44	35.7
LVEDD (cm)	4.72	3.7	—	3.57	3.9	—	4.2
LVPWd (cm) (±SD)	1.05	1.1 (+3.9)	—	0.87 (+2.1)	1.27	—	1.5
IVSD (cm) (±SD)	1.31	1.1 (+3.2)	—	0.55 (−1.7)	1.43	—	1.7
Latest echocardiography
EF (%)	67	65	60	57	61	66	65
FS (%)	—	58	45	39	35.2	37.9	—
LVEDD (cm)	4.91	3.64	4.64	4.16	4.04	3.91	4.71
LVPWd (cm) (±SD)	0.98	1.74 (+6.6)	0.82 (−0.3)	1.0 (+1.5)	1.18	2.02 (+8.1)	1.26
IVSD (cm) (±SD)	1.16	1.7 (+4.8)	0.82 (−0.6)	1.4 (+3.9)	1.47	2.52 (+12.7)	1.4
Biomarker (initially)
Troponin (ng/L)	<40	<40	<40	<20	90	4200	40
Creatine kinase (U/L)	131	68	286	103	98	350	125
BNP (ng/L)	21	28	14	22	253	16	<42
Biomarker (latest)
Troponin (ng/L)	—	83	<20	<20	351	528	26
Creatine kinase (U/L)	—	76	115	81	71	156	147
BNP (ng/L)	—	234	7	11	55	84	11