Table 1 Clinical characteristics.
Family | ID | Sex | Age | Diagnostic basal ECG | Drug Challenge test | Electrophysiological study | Syncope | Cardiac arrest | ICD shock | ECG type 1 | Affected | Mutation position |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 1a | M | 41 | + | + | N/A | + | − | + | + | + | R1632C (p.Arg1632Cys) |
1b | F | 43 | − | − | N/A | − | − | − | − | − | ||
2 | 2a | F | 72 | − | − | − | − | − | − | − | − | N1443S (p.Asn1443Ser) |
2b | M | 49 | + | − | − | − | − | − | + | + | ||
3 | 3a | F | 48 | − | − | − | − | − | − | − | − | G1743R (p.Gly1743Arg) |
3b | M | 58 | + | N/A | − | − | − | − | − | + | ||
3c | M | 70 | − | − | − | − | − | − | − | − | ||
3d | M | 43 | + | − | + | − | − | + | + | + | ||
4 | 4a | M | 48 | − | − | N/A | − | − | − | − | − | I768V (p.Ile768Val) |
4b | F | 44 | + | N/A | N/A | + | − | − | − | + | ||
5 | 5a | F | 66 | + | − | − | − | − | − | + | + | G1743R (p.Gly1743Arg) |
5b | M | 60 | − | − | − | − | − | − | − | − | ||
5c | F | 57 | + | − | − | + | − | − | + | + | ||
6 | 6a | M | 46 | − | − | − | − | − | − | − | − | G1743R (p.Gly1743Arg) |
6b | M | 59 | + | N/A | − | − | − | + | + | + | ||
7 | 7a | M | 83 | + | N/A | N/A | + | − | + | + | + | G1743R (p.Gly1743Arg) |
7b | F | 44 | + | N/A | − | + | − | − | + | + | ||
8 | 8a | M | 72 | + | N/A | − | − | − | − | + | + | G1743R (p.Gly1743Arg) |
8b | F | 23 | + | N/A | N/A | + | − | + | + | + | ||
8c | F | 78 | − | − | N/A | − | − | − | − | − | ||
8d | F | 46 | − | − | − | − | − | − | − | − | ||
9 | 9a | F | 28 | − | + | − | − | − | − | − | + | R179X (p.Arg179Ter) |
9b | M | 59 | − | + | − | + | + | + | + | + | ||
10 | 10a | F | 65 | − | − | N/A | − | − | N/A | − | − | D1816fs (p.Asp1816fs) |
10b | F | 66 | + | + | + | + | + | − | + | |||
10c | M | 34 | − | + | N/A | − | − | N/A | − | |||
10d | F | 65 | − | − | N/A | − | − | N/A | − | − |
