Table 1 .
Summary of clinical features of calmodulin mutation carriers.
| Subject | Sex | Age at Diagnosis |
VF | QTc | TWA | 2:1 AVB | Seizures | Developmental delay |
Treatments | Mutation1 |
|---|---|---|---|---|---|---|---|---|---|---|
| Proband 1 | F | 6 months | + | 630 ms | + | + | − | +/− | BB, MEX, VER, FLEC, ICD, LCSD, RCSD | CALM1-D130G |
| Proband 2 | F | prenatal | + | 690 ms | + | + | + | + | BB, MEX, ICD | CALM2-D96V |
| Case 3 | M | 1 month | + | 610 ms | + | + | + | + | BB, MEX, ICD | CALM1-D130G |
| Case 4 | M | ? neonatal | + | >600 ms | + | − | + | + | BB, MEX, LCSD | CALM1-F142L |
1
Mutation position is based on RefSeq NP_005175 and counting the predicted translational start codon (Met) as position 1.
VF, ventricular fibrillation; QTc, rate-corrected QT interval; TWA, T-wave alternans; AVB, atrioventricular block; BB, β-blocker (propranolol); MEX, mexiletine; VER, verapamil; FLEC, flecainide; ICD, implantable cardioverter defibrillator; LCSD, left cardiac sympathetic denervation; RCSD, right cardiac sympathetic denervation.