Table 1.
Clinical features of study individuals
| PRKAG2 mutation | Age at CMR (yrs) | Age at Dx (yrs) | Sex | Pre-excitation | WPW | Conduction system diseasea | 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