Fig. 1

Pedigrees of two families with PRKAG2 cardiac syndrome and consequent clinical phenotypes of patients. Individuals with a PRKAG2 mutation (+) were identified, with R302Q substitution in family 1 (a) and H344P substitution in family 2 (b). Squares indicate males and circles females. Filled symbols indicate disease phenotype in affected individuals, i.e., cardiac hypertrophy (left half filled), pre-excitation (right upper quadrant filled), or conduction system disease (right lower quadrant filled). Open symbols denote unaffected individuals and shading denotes uncertain clinical status. Arrows indicate index patients. The electrocardiogram of a patient with the R302Q mutation (c). Atrial pacing with large QRS deflections and pathologic T waves