Table 1.
Genotype-phenotype correlation between deletion carriers and non-deletion carriers
| Total population | Deletion carriers n = 70 | Deletion non-carriers n = 36 | p value | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Females = 36, Males = 34 | Females = 22, Males = 14 | 0.4 | |||||||
| Number of individuals | Number of individuals | ||||||||
| Yes | No | NA | Yes | No | NA | ||||
| Cardiac electrical disorders | 97% | 67 | 2 | 1 | 3% | 1 | 31 | 10 | <2.2E−16 |
| Sinus node dysfunction | 94% | 65 | 4 | 1 | 0% | 0 | 33 | 3 | <2.2E−16 |
| Pacemaker | 57% | 39 | 30 | 1 | 0% | 0 | 32 | 4 | 1.7E−09 |
| Atrial fibrillation | 45% | 26 | 32 | 12 | 3% | 1 | 31 | 4 | 2.1E−05 |
| RR interval (SD) | 1037 ms (315) | 70 | / | 0 | 758 ms (184) | 31 | / | 5 | <1.0E−04 |
| QTc Bazett (SD) | 421 ms (43) | 70 | / | 0 | 397 ms (30) | 32 | / | 4 | 0.02 |
| QTUc (SD) | 575 ms (79) | 60 | / | 10 | 441 ms (51) | 19 | / | 17 | <1.0E−04 |
| Cardiac structural defects | 72% | 42 | 16 | 12 | 14% | 4 | 24 | 14 | 4.6E−07 |
| Atrial septal defect | 24% | 14 | 44 | 12 | 0% | 0 | 27 | 9 | 3.7E−03 |
| Non-compaction of the left ventricle | 24% | 13 | 42 | 15 | 0% | 0 | 27 | 9 | 3.8E−03 |
| Mitral valve prolapse or billowing | 38% | 21 | 35 | 14 | 15% | 4 | 23 | 9 | 4.3E−02 |
| Vena cava azygos return | 9% | 5 | 49 | 16 | 0% | 0 | 27 | 9 | 0.2 |
| Pulmonary valve stenosis | 7% | 4 | 51 | 15 | 0% | 0 | 27 | 9 | 0.3 |
Significance p value for each parameter was determined with two-sided Fisher’s exact test (Symptomatic, sinus node dysfunction, Pacemaker, Atrial Fibrillation, Holter ventricular hyperexcitability, Ventricular arrhythmia after PM implantation, Mitral valve prolapse or billowing, Atrial septal defect, Non-compaction of the left ventricle, Vena cava azygos return, Pulmonary valve stenosis), two-sided Mann–Whitney test (QTc Bazett) and two-sided Welch’s t test (QTUc). Individual data are available in Supplementary Data 1.