Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation

BMC Medical Genomics

Table 1 Clinical Characteristics of the Family Members

Age	Gender	PRKAG2 mutation c.905G>A	ECG	Echocardiography				CMR	Symptoms	Comments
Age	Gender	PRKAG2 mutation c.905G>A	ECG	IVST (mm)	LVEDD (mm)	LVPWT (mm)	EF (%)	CMR	Symptoms	Comments
64	M	No	Normal	9	50	8	66	-	No
63	F	Yes	Dual chamber pacing	7	43	8	63	-	Palpitation and chest distress	Dual-chamber pacemaker
36	M	No	Normal	9	45	9	64	-	No	No
36	F	Yes	Sinus bradycardia, short PR interval and LVHV	15	46	11	65	LVNC	Palpitation and chest distress	No
29	M	No	Normal	9	51	9	76	-	No	No
30	F	Yes	Sinus bradycardia, short PR interval	7	45	7	69	LVNC	Palpitation	No
24^*	M	No	-		-	-	-	-	-	Sudden cardiac death
39	M	-	-		-	-	-	-	No	No
38	F	-	Normal		-	-	-	-	No	No
12	M	Yes	Normal	6	42	5	64	LVNC	No	No
6	F	No	Normal	5	33	4	64	-	No	No
6	M	Yes	Normal	6	35	5	71	-	No	No
2	F	-	-					-	No	No
19	M	-	-		-	-	-	-	No	No
3	M	-	-		-	-	-	-	No	No

^* Subject II-5 died at the age of 24. ECG, electrocardiogram; LVHV, left ventricular high voltage; IVST, interventricular septum thickness; LVEDD, left ventricular end diastolic diameter; LVPWT, left ventricular posterior wall thickness; EF, ejection fraction; CMR, cardiac magnetic resonance; LVNC, left ventricular non-compaction cardiomyopathy

ISSN: 1755-8794