Table 1 Overall characteristics of mutation carriers
Variable | Clinical data |
|---|---|
Number of mutation carriers (%) | 25 |
Type of mutation | 6-missense/19-nonsense |
Male sex (%) | 17 (68) |
Number of asymptomatic carriers; mean age ± SD | 5; 28,2 ± 7,1 years |
Mean age at the onset of symptoms ± SD | 29,9 ± 13,3 years |
Conduction disease/AV block I, II | 18/25 (72%)/ 13/25 (52%) |
Atrial fibrillation (%) | 9/25 (36%) |
Complex ventricular arrhythmia (VT/VF) | 15/25 (60%) |
Heart failure, n (%), mean age ± SD | 9/25 (36%), 36.9 ± 11.3 years |
Pacemaker implantations (%) | 8 (32%) |
Cardioverter-defibrillator implantations (%) | 14 (56%) |
Adequate ICD discharges, n (%); time to first intervention | 4 (28.6%); 1.8-20 months |
Subjects with CPK measured; elevated CPK > 308U/l (%) | 23; 8 (34.8%) |
Heart transplantation (%), mean age ± SD | 6/25 (24%), 39,2 ± 9.9 years |