Table 1.
Neurological and cardiac phenotypes in a family with a heterozygous CACNA1D variant, p.Arg930His (+).
| ID | Sex |
CACNA1D Variant |
Baseline ECG HR [/min]; PQ; QRS; QTc [ms] |
Holter ECG | Cardiac Phenotype | Neurologic Phenotype | EEG |
|---|---|---|---|---|---|---|---|
| I:1 | m | − | 75; 148; 100; 400 | n.a. | LAHB | n.a. | |
| I:2 | f | + | 52; 175; 92; 387 | AVB I°; 42–109/min |
LAHB | n.a. | |
| II:1 | m | − | 85; 155; 82; 384 | n.a. | − | n.a. | |
| II:2 | f | + | 85; 126; 87; 379 | SND, 40/min; pauses of 2.3 s 48–126/min |
TTE: AVB III°; cardiac MRI unremark. |
n.a. | |
| II:3 | m | + | 56; 135; 73; 341 | sinus arrhythmia; 48–103/min | − | n.a. | |
| II:6 | f | + | 75; 117; 58; 398 | sinus arrhythmia, 40–143/min | TTE unremark. |
n.a. | |
| II:7 | f | + | 70; 135; 89; 390 | AVB I°, AVB II°, sinus arrhythmia; 47–152/min |
− | n.a. | |
| III:1 | f | + | n.a. # | SA | cardiac syncope, PM (3 y) * |
IFE; ADHD | focal sharp waves: left occipital, left frontal and frontopolar |
| III:2 | f | + | 76; 127; 76; 354 | sinus arrhythmia, AVB I°/II°; 70–154/min |
− | IFE; ADHD | focal sharp waves: frontal and central |
| III:3 | m | + | 142; 94; 71; 400 | unremarkable; 110–189/min | − | IFE; ADHD | focal sharp waves: left occipital |
| III:4 | f | + | 86; 157; 63; 387 | AVB I°, AVB II°, SA; 64–142/min |
IFE; ADHD | unremarkable |
m, male; f, female; *, age of PM implantation; AVB, atrio-ventricular block; LAHB, left anterior hemi-block; SND, sinus node dysfunction; SA, sinus arrest; TTE, transthoracic echocardiography; # due to PM implantation; PM, pacemaker; ADHD, attention deficit hyperactivity disorder; IFE, idiopathic focal epilepsy; n.a., not available; +/−, presence in the heterozygous state; −/−, absence of variant, wild-type.