Table 1 Demographics of all available, unrelated index cases referred for molecular genetic testing regarding Long QT syndrome in ordinary health care
Mutation positive | |||||||||
|---|---|---|---|---|---|---|---|---|---|
Total cohort | KCNQ1 positive | KCNH2 positive | SCN5A positive | KCNE1 positive | KCNE2 positive | RYR2 positive | LQTS positive | Genotype negative | |
Number of index cases | 200 | 60 | 25 | 13 | 1 | 1 | 3 | 100 | 97 |
Mean age, SD range, years | 33±20 0-79 | 36±23 0-79 | 29±17 3-69 | 24±16 0-52 | 49 | 60 | 20 13-32 | 34±21 0-79 | 32±20 0-76 |
Sex, female/male | 138/62 | 45/15 | 19/6 | 6/7 | 1/0 | 1/0 | 1/2 | 73/27 | 65/32 |
Average QTc, SD range, ms | 463±44 305-640 (136) | 479±37 403-597 (41) | 472±30 436-565 (20) | 505±66 434-640 (10) | 447-(1) | 478-(1) | 428 395-454 (3) | 481±41 403-640 (73) | 445±41 305-510 (60) |
Syncope, % Yes/No | 61% 72/46 (118) | 53% 19/17 (36) | 68% 13/6 (19) | 4/4 (8) | No (1) | No (1) | 1/1 (2) | 55% 36/29 (65) | 69% 35/16 (51) |
Family history, % Yes/No | 43% 49/65 (114) | 76% 29/9 (38) | 63% 12/7 (19) | 3/3 (6) | Yes (1) | No (1) | 1/1 (2) | 69% 45/20 (65) | 6% 3/44 (47) |
Β-blockers, % Yes/No | 52% 59/54 (113) | 67% 22/11 (33) | 68% 13/6 (19) | 3/8 (8) | Yes (1) | Yes (1) | 2/0 (2) | 65% 40/22 (62) | 35% 17/32 (49) |