BACKGROUND: -Cardiac device implantation can be complicated by inability to adequately place leads due to significant lead capture issues. This study sought to determine if there are genetic bases that underlie poor lead capture. METHODS AND RESULTS: -Retrospective review of all @entity1 with structurally normal hearts who underwent new device implantation at Texas @entity1 's Hospital between 2009-2014 was performed. @entity1 with inability to capture at 10V or a final capture threshold >= 3V at 0.4ms during implant were analyzed. Among a total of 136 @entity1 (median age 13 years, range 3 days-46 years), 11 @entity1 (8.1%) who underwent dual chamber device implantation had elevated thresholds in the atria (4), ventricle (3), or both chambers (4) (atrial-lead threshold: 4.7  4.3V vs. 0.7  0.3V; ventricular-lead: 3.0  3.3V vs. 0.7  0.3V). All 11 @entity1 presented with @entity1817 and 10 had @entity943 . At implant, inability to find atrial capture was seen in 4 @entity1 . Three demonstrated intermittent complete loss of ventricular capture after implantation: 1 has recurrent @entity1163 , 2 eventually died. Genetic testing performed in 10 demonstrated 7 @entity1 with 6 distinct @entity1788 mutations, all predicted to be severe loss-of-function mutations by bioinformatic analyses. In the remaining @entity1 , although putative pathogenic mutations were not found, multiple @entity1788 polymorphisms were identified in 2 and a @entity2283 mutation in 1. CONCLUSIONS: -This study suggests that significant capture issues at implant may be due to loss-of-function @entity1788 mutations, providing new insights into @entity1788 function. Recognition of this association may be critical for planning device implantation strategies and @entity1 follow-up.

Loss-of-Function @entity1788 Mutations Associated with XXXX , @entity943 , and Poor Pacemaker Capture.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients', 'Children', 'patient'] @entity1788 :: ('6331', 'Gene') :: ['SCN5A'] @entity2283 :: ('1674', 'Gene') :: ['desmin'] @entity1163 :: ('MESH:D013575', 'Disease') :: ['syncope'] @entity1817 :: ('MESH:D012804', 'Disease') :: ['sinus node dysfunction'] @entity943 :: ('MESH:D001145', 'Disease') :: ['atrial arrhythmias']
@entity1817 :: (MESH:D012804,Disease) :: ['Sinus Node Dysfunction']
