Skip to main content

Table 1 Clinical features of study individuals

From: Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations

  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
  1. Mutation nomenclature is based on GenBank accession NM_016203.3 (PRKAG2) with nucleotide one being the first nucleotide of the translation initiation codon ATG
  2. 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
  3. aSinus node dysfunction or atrioventricular block on ECG
  4. bData not available
  5. cWas not examined with CMR. Cardiac hypertrophy diagnosis was based on the explanted heart