Short QT and atrial fibrillation: A KCNQ1 mutation–specific disease

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Presentation transcript:

Short QT and atrial fibrillation: A KCNQ1 mutation–specific disease Short QT and atrial fibrillation: A KCNQ1 mutation–specific disease. Late follow-up in three unrelated children Georgia Sarquella-Brugada, MD, Oscar Campuzano, PhD, Anna Iglesias, MSc, Josefina Grueso, MD, PhD, David J. Bradley, MD, Gunter Kerst, MD, PhD, Daniel Shmorhun, MD, PhD, Josep Brugada, MD, PhD, Ramon Brugada, MD, PhD HeartRhythm Case Reports Volume 1, Issue 4, Pages 193-197 (July 2015) DOI: 10.1016/j.hrcr.2015.02.005 Copyright © 2015 Heart Rhythm Society Terms and Conditions

Figure 1 Electrocardiogram of patient 2 at birth, showing irregular rhythm with no P or F waves and a QT interval of 290 msec. HeartRhythm Case Reports 2015 1, 193-197DOI: (10.1016/j.hrcr.2015.02.005) Copyright © 2015 Heart Rhythm Society Terms and Conditions

Figure 2 Electrocardiogram of patient 3 at 9 years of age, showing atrial fibrillation, narrow QRS complexes, and short QTc interval. HeartRhythm Case Reports 2015 1, 193-197DOI: (10.1016/j.hrcr.2015.02.005) Copyright © 2015 Heart Rhythm Society Terms and Conditions

Figure 3 Sequencing analysis displaying a de novo missense pathogenic mutation (p.V141M) in exon 2 of the KCNQ1 gene that codifies the potassium channel KvLQT1. Change of G to A in the KCNQ1 gene nucleotide 421 (c.421G>A), which carries a replacement of GTG valine (V, Val) by ATG, methionine (M, Met), at position 141 (p.V141M, p.Val141Met) of the transmembrane domain S1. HeartRhythm Case Reports 2015 1, 193-197DOI: (10.1016/j.hrcr.2015.02.005) Copyright © 2015 Heart Rhythm Society Terms and Conditions

Figure 4 Multiple sequence alignment and taxonomy. Conservation of the altered amino acid in the genetic variation p.V141M. The asterisk (*) indicates the position of conserved amino acid between species. HeartRhythm Case Reports 2015 1, 193-197DOI: (10.1016/j.hrcr.2015.02.005) Copyright © 2015 Heart Rhythm Society Terms and Conditions