biostudies-literaturePotter ASNICHD NIH HHSNHLBI NIH HHSNHGRI NIH HHSe004614https://www.ebi.ac.uk/biostudies/studies/S-EPMC11335451biostudies-literatureUnknown17(4)<h4>Background</h4>Accessory pathways are a common cause of supraventricular tachycardia (SVT) and can lead to sudden cardiac death in otherwise healthy children and adults when associated with Wolff-Parkinson-White syndrome. The goal of this study was to identify genetic variants within a large family with structurally normal hearts affected by SVT and Wolff-Parkinson-White syndrome and determine causality of the gene deficit in a corresponding mouse model.<h4>Methods</h4>Whole exome sequencing performed on 2 distant members of a 3-generation family in which multiple members were affected by SVT or Wolff-Parkinson-White pattern (preexcitation) on ECG identified <i>MRC2</i> as a candidate gene. Serial electrocardiograms, intracardiac electrophysiology studies, echocardiography, optical mapCirculation. Genomic and precision medicineRare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome.PMC11335451UM1 HG006348R01 HL153350UM1 HG006542K23 HL136932P50 HD103555R01 HL160992R01 HL089598Gonzaga-Jauregui CMoreira LMMehta NWehrens XHTMiyake CYLahiri SKAzamian MSPotter ASReilly SHulsurkar MMLalani SRAguilar-Sanchez YLupski JRfalseRare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome.<h4>Background</h4>Accessory pathways are a common cause of supraventricular tachycardia (SVT) and can lead to sudden cardiac death in otherwise healthy children and adults when associated with Wolff-Parkinson-White syndrome. The goal of this study was to identify genetic variants within a large family with structurally normal hearts affected by SVT and Wolff-Parkinson-White syndrome and determine causality of the gene deficit in a corresponding mouse model.<h4>Methods</h4>Whole exome sequencing performed on 2 distant members of a 3-generation family in which multiple members were affected by SVT or Wolff-Parkinson-White pattern (preexcitation) on ECG identified <i>MRC2</i> as a candidate gene. Serial electrocardiograms, intracardiac electrophysiology studies, echocardiography, optical map2024-01-01T00:00:00Z2024 Aug2026-03-16T06:42:41.703Z2025-08-15T03:06:04.693ZS-EPMC113354513895322210.1161/CIRCGEN.124.00461410.1161/circgen.124.004614