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. 2022 Nov 10;25(2):643–650. doi: 10.1093/europace/euac196

Table 3.

Genetic test results

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.