Table I.
Clinical summary of reported families with RYR2 exon 3 deletion. The rows shaded grey represent patients with the same deletion mutation as the current study.
| Family | Deletion | n | Syn | Brady | AV block | VT | VPC | LVNC | AF | SA dysfunction | LV dysfunction | ICD | Pacemaker | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | c.161-236_c.272+781del1126 | 11 | 3 | 11 | 10 | 7 | 4 | 1 | (10) | |||||
| 2 | c.161-236_c.272+781del1126 | 2 | 1 | 2 | 2 | 1 | 1 | 1 | ||||||
| 3 | 3.6 kb del of exon 3 | 1 | (9) | |||||||||||
| 4 | c.168-301_c.273+722del1128 | 4 | 1 | 2 | 1 | 4 | 1 | 2 | 2 | (11) | ||||
| 5 | c.168-228_c.273+793del1126 | 2 | 1 | 2 | 2 | 1 | 1 | 1 | ||||||
| 6 | c.169-198_273+823del1126 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | (13) | |||||
| 7 | c.169-22924_c.273+14653del37682 | 6 | 2 | 5 | 1 | 2 | 2 | 5 | 1 | 3 | 2 | 1 | (12) | |
| 8 | c.169-198_c.273+823del1126 | 2 | 2 | 2 | 1 | 1 | 1 | 2 | 1 | 1 | ||||
| 9 | c.169-198_c.273+823del1126 | 2 | 1 | 2 | 2 | 2 | 2 | Current study | ||||||
| Total | 31 | 8 | 12 | 7 | 25 | 9 | 9 | 16 | 16 | 5 | 5 | 3 | ||
| (%) | (25.8%) | (38.7%) | (22.6%) | (80.6%) | (29.0%) | (29.0%) | (51.6%) | (51.6%) | (16.1%) | (16.1%) | (9.7%) |
AF = atrial fibrillation; AV = atrioventricular block; Brady = bradycardia; ICD = implantable cardioverter-defibrillator; LV = left ventricular; LVNC = left ventricular non-compaction cardiomyopathy; SA = sino-atrial; Syn = syncope; VPC = ventricular premature complex; VT = ventricular tachycardia.