Table 3.
Gender | Age at IPG implantation | PR (ms) | Intrinsic QRSa/paced QRS (ms) | Gene variant | Protein Change | NM number | Significance (ACMG criteria) | LVEF at last FU | VP% at last FU | |
---|---|---|---|---|---|---|---|---|---|---|
Pt #1 | Male | 48 | – | 137/150 | TRPM4 | p.(Gly844Asp) | 017 636.3 | US | 65% | 100% |
c.2531G > A | ||||||||||
Pt #2 | Female | 42 | 135 | 88/145 | None | – | – | – | 63% | 8% |
Pt #3 | Female | 19 | – | 120/160 | MYBPC3 | p.(Asp358Glu) | 000256.3 | US | 55% | 100% |
c.1074T > A | ||||||||||
Pt #4 | Male | 30 | 150 | 100/145 | None | – | – | – | 60% | 18% |
Pt #5 | Female | 25 | 280 | 90/162 | SCN5A | p.(Arg1897Trp) | 198056.2 | US | 55% | 80% |
c.5689C > T | ||||||||||
KCNE1 | p.(Asp85Asn) | 000219.5 | ||||||||
c.253G > A | ||||||||||
Pt #6 | Male | 47 | 180 | 99/149 | None | – | – | – | 58% | 7% |
Pt #7 | Male | 44 | – | 118/162 | LMNA | – | – | US | 59% | 100% |
Pt #8 | Male | 44 | 148 | 105/151 | None | – | – | – | 56% | 9% |
Pt #9 | Male | 26 | 137 | 96/149 | MYBPC3 | p.(Asp358Glu) | 000256.3 | US | 61% | 9% |
c.1074T > A | ||||||||||
Pt #10 | Male | 44 | – | 130/175 | TRPM4 | p.(Gly844Asp) | 017636.3 | US | 62% | 100% |
c.2531G > A | ||||||||||
Pt #11 | Male | 49 | 140 | 102/158 | None | – | – | – | 53% | 12% |
Pt #12 | Male | 30 | 245 | 96/144 | PKP2 | p.(Lys672ArgfsTer12) | 004572.3 | Pathogenic | 58% | 9% |
c.2013delC | ||||||||||
Pt #13 | Female | 33 | 139 | 84/153 | None | – | – | – | 60% | 7% |
Pt #14 | Female | 47 | 150 | 95/162 | GJA5 | p.(Arg316His) | 005266.6 | US | 61% | 5% |
c.947G > A | ||||||||||
Pt #15 | Male | 45 | – | 100/152 | TRPM4 | p.(Gly844Asp) | 017636.3 | US | 60% | 100% |
c.2531G > A |
US, uncertain significance; IPG, implantable pulse generator; LVEF, left ventricle ejection fraction; VP%, ventricular pacing percentage; FU, follow-up; ACMG, American College of Medical Genetics and Genomics.
Intrinsic QRS intervals refer to measurement performed during the episode of AV block.