Erschienen in:Annals of Noninvasive Electrocardiology
Sprache:
Englisch
DOI:
10.1111/anec.12548
ISSN:
1542-474X;
1082-720X
Entstehung:
Anmerkungen:
Beschreibung:
<jats:sec><jats:title>Introduction</jats:title><jats:p>Loss‐of‐function (LoF) mutations in the <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> gene cause multiple phenotypes including Brugada Syndrome (BrS) and a diffuse cardiac conduction defect. Markers of increased risk for sudden cardiac death (<jats:styled-content style="fixed-case">SCD</jats:styled-content>) in LoF <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> mutation carriers are ill defined. We hypothesized that late potentials and fragmented <jats:styled-content style="fixed-case">QRS</jats:styled-content> would be more prevalent in <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> mutation carriers compared to <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic>‐negative BrS patients and evaluated risk markers for <jats:styled-content style="fixed-case">SCD</jats:styled-content> in <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> mutation carriers.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We included all <jats:italic>SCN5A</jats:italic> loss‐of‐function mutation carriers and <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic>‐negative BrS patients from our center. A combined arrhythmic endpoint was defined as appropriate <jats:styled-content style="fixed-case">ICD</jats:styled-content> shock or <jats:styled-content style="fixed-case">SCD</jats:styled-content>.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Late potentials were more prevalent in 79 <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> mutation carriers compared to 39 <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic>‐negative BrS patients (66% versus 44%, <jats:italic>p </jats:italic>=<jats:italic> </jats:italic>.021), while there was no difference in the prevalence of fragmented <jats:styled-content style="fixed-case">QRS</jats:styled-content>. <jats:styled-content style="fixed-case">PR</jats:styled-content> interval prolongation was the only parameter that predicted the presence of a <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> mutation in BrS (<jats:styled-content style="fixed-case">OR</jats:styled-content> 1.08; <jats:italic>p </jats:italic><<jats:italic> </jats:italic>.001). Four <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> mutation carriers, of whom three did not have a diagnostic type 1 <jats:styled-content style="fixed-case">ECG</jats:styled-content> either spontaneously or after provocation with a sodium channel blocker, reached the combined arrhythmic endpoint during a follow‐up of 44 ± 52 months resulting in an annual incidence rate of 1.37%.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p><jats:styled-content style="fixed-case">LP</jats:styled-content> were more frequently observed in <jats:italic>SCN5A</jats:italic> mutation carriers, while <jats:styled-content style="fixed-case">fQRS</jats:styled-content> was not. In <jats:italic>SCN5A</jats:italic> mutation carriers, the annual incidence rate of <jats:styled-content style="fixed-case">SCD</jats:styled-content> was non‐negligible, even in the absence of a spontaneous or induced type 1 <jats:styled-content style="fixed-case">ECG</jats:styled-content>. Therefore, proper follow‐up of <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>5A</jats:italic> mutation carriers without Brugada syndrome phenotype is warranted.</jats:p></jats:sec>