Table 1.
Clinical Characteristics of the Study Population
| All (n=82) | Desmosomal Mutation (n=39) | No Desmosomal Mutation (n=43) | P Value* | |
|---|---|---|---|---|
| Male | 53 (65) | 27 (69) | 26 (61) | 0.41 |
| Proband | 82 (100) | 39 (100) | 43 (100) | 1.0 |
| Age at interview, y | 43±14 | 40±14 | 46±13 | 0.043 |
| Presentation | ||||
| Age at presentation, y | 35±14 | 32±14 | 39±14 | 0.007 |
| Symptomatic presentation | 79 (96) | 37 (95) | 42 (98) | 0.46 |
| Arrhythmic presentation | 59 (72) | 31 (79) | 28 (65) | 0.15 |
| Sustained VT | 47 | 22 | 25 | |
| Resuscitated SCA | 4 | 4 | 0 | |
| Syncope | 8 | 5 | 3 | |
| Exercise‐associated arrhythmia | 43/59 (73) | 22/31 (71) | 21/28 (75) | 0.73 |
| 2010 Task Force Criteria | ||||
| Structural alterations | 58 (71) major | 28 (72) major | 30 (70) major | 0.83 |
| 8 (10) minor | 3 (8) minor | 5 (12) minor | ||
| Repolarization abnormalities | 62 (76) major | 33 (85) major | 29 (67) major | 0.11 |
| 13 (16) minor | 5 (13) minor | 8 (19) minor | ||
| Depolarization abnormalities | 7 (9) major | 3 (8) major | 4 (9) major | 0.86 |
| 52 (63) minor | 24 (62) minor | 28 (65) minor | ||
| Arrhythmias | 35 (43) major | 15 (39) major | 20 (47) major | 0.42 |
| 43 (52) minor | 23 (59) minor | 20 (47) minor | ||
| Family history/Genetics | 41 (50) major | 39 (100) major | 2 (5) major | <0.001 |
| 9 (11) minor | 7 (18) minor | 2 (5) minor | ||
| ICD implantation | 79 (96) | 39 (100) | 40 (93) | 0.24 |
| Cardiac transplantation | 5 (6) | 4 (10) | 1 (2) | 0.19 |
Values are in n (%) or mean±SD. ICD indicates implantable cardioverter‐defibrillator; SCA, sudden cardiac arrest; VT, occurrence of spontaneous sustained ventricular tachycardia.
*
P value represents comparison between participants with (n=39) and without (n=43) desmosomal mutations.