Table 1. Demographic and electrocardiographic features in members of the family.
| ECG intervals (ms) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Member | Sex | Age (Years) | Symptoms | Clinical ECG Diagnosisi | QRS Axis | Heart Rate (Beats/min) | PR | QRS | QT/QTc | others | Mutation (Y1495X) |
| II-1 | M | 76 | Asymptomatic | no | −2 | 83 | 190(210) | 82(100) | 368/432 | - | |
| II-3* | M | 72 | Syncope(>20) | Sinus bradycardia, LAFB, T wave abnormalities | −67 | 50 | 256(210) | 144(100) | 446/418 | + | |
| II-5 | F | 35 † | Syncope | NA | NA | NA | NA | NA | NA | Sudden death | NA |
| II-7 | M | 37 † | Syncope | NA | NA | NA | NA | NA | NA | Sudden death | NA |
| II-8 | F | 64 | Syncope(>10) | RBBB | −65 | 52 | 244(210) | 140(100) | 438/426 | + | |
| III-6 | M | 39 | 3syncopes | RBBB | 61 | 208(210) | 134(100) | 430/432 | + | ||
| III-8 | M | 35 | 3 syncopes | RBBB | 268 | 74 | 168(210) | 172(100) | 422/468 | + | |
| III-10*# | M | 48 | 3 syncopes | Sinus bradycardia, first degree AVB | 254 | 54 | 284(210) | 142(100) | 446/434 | CHD (TOF) | + |
| III-14* | F | 46 | Asymptomatic | no | 42 | 82 | 138(210) | 80(90) | 370/432 | − | |
| III-18 | M | 30 | 2 syncopes | RBBB | 14 | 56 | 204(210) | 138(100) | 434/434 | + | |
| IV-1* | M | 8 | 1 syncope | LAFB | −41 | 75 | 148(170) | 92(90) | 382/426 | + | |
| IV-2 | F | 5 | Asymptomatic | no | 42 | 124 | 128(170) | 62(90) | 306/439 | − | |
| IV-4 | M | 18 | 2 syncopes | Sinus bradycardia | 74 | 37 | 202(180) | 96(100) | 454/383 | + | |
NA = not available; QTc = corrected QT interval; RBBB = Right Bundle Branch Block; LAFB = Left anterior fascicular block. AVB = atrioventricular Block; CHD = congenital heart disease; TOF = tetralogy of Fallot.
+ Y1495X present, − Y1495X absent.
*Whole- exome sequenced.
†Age of death.
#Index case.