Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations

Table 1 Clinical features of study individuals

	PRKAG2 mutation	Age at CMR (yrs)	Age at Dx (yrs)	Sex	Pre-excitation	WPW	Conduction system disease^a	PM	EP study ± RF ablation	Syncope	Cardiac hypertrophy	Tx	Death	Blood pressure (systolic/diastolic) mmHg	NYHA functional class	Serum Creatinine (μmol/l)	Hemoglobin (g/l)	NT-proBNB (ng/l)
Family 1
I:1	R302Q	48	30	M	-	-	+	+	-	+	+	-	-	136/80	1	91	165	^b
II:1	R302Q	26	8	M	+	+	-	-	+	+	+	-	-	113/69	1	83	153	31
II:2	R302Q	24	24	M	-	-	-	-	+	-	+	-	-	110/57	1	^b	^b	25
II:3	R302Q	23	5	F	-	-	+	+	-	-	+	-	-	127/56	1	63	115	1078
II:4	None	19		M	-	-	-	-	-	-	-	-	-	124/62	1	^b	^b	^b
II:5	R302Q	16	16	M	-	-	-	-	-	-	+	-	-	115/63	1	^b	^b	^b
Family 2
I:1	H344P	^c	24	M	-	-	+	+	-	+	+	+	+	160/100	3	58	120	39
II:1	H344P	17	10	F	+	+	-	-	+	-	+	-	-	116/65	1	129	146	1330

Mutation nomenclature is based on GenBank accession NM_016203.3 (PRKAG2) with nucleotide one being the first nucleotide of the translation initiation codon ATG
Abbreviations: CMR cardiovascular magnetic resonance, Dx diagnosis, EP electrophysiologic, F female, LVH left ventricular hypertrophy, M male, NT-proBNB N-terminal of the prohormone brain natriuretic peptide, NYHA New York Heart Association, PM permanent pacemaker, RF radiofrequency, Tx cardiac transplantation, WPW Wolff-Parkinson-White syndrome
^aSinus node dysfunction or atrioventricular block on ECG
^bData not available
^cWas not examined with CMR. Cardiac hypertrophy diagnosis was based on the explanted heart

ISSN: 1532-429X