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Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing  Samuel Chauveau, MD, Alexandre Janin, PharmD,

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Presentation on theme: "Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing  Samuel Chauveau, MD, Alexandre Janin, PharmD,"— Presentation transcript:

1 Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing  Samuel Chauveau, MD, Alexandre Janin, PharmD, Marianne Till, MD, PhD, Elodie Morel, PhD, Philippe Chevalier, MD, PhD, Gilles Millat, PhD  HeartRhythm Case Reports  Volume 3, Issue 12, Pages (December 2017) DOI: /j.hrcr Copyright © 2017 Heart Rhythm Society Terms and Conditions

2 Figure 1 A: After his first out-of-hospital cardiac arrest, the patient's electrocardiogram showed sinus rhythm and minimal J ST-segment elevation in lateral leads. B: Twenty-four-hour Holter recording demonstrated augmentation of the early repolarization pattern during sleep. During daytime, after a pause, there was no augmentation of the early repolarization pattern. HeartRhythm Case Reports 2017 3, DOI: ( /j.hrcr ) Copyright © 2017 Heart Rhythm Society Terms and Conditions

3 Figure 2 A: Electrocardiogram performed a couple of hours after an electrical storm revealed atrial fibrillation, complete right bundle branch block, and J-point elevation with descending ST segment in inferior and V3 leads. Note that the T wave is positive in lead V3. B: A few hours after hospital admission, atrial fibrillation converted spontaneously to sinus rhythm and early repolarization pattern was evident only in inferolateral leads. HeartRhythm Case Reports 2017 3, DOI: ( /j.hrcr ) Copyright © 2017 Heart Rhythm Society Terms and Conditions

4 Figure 3 A: Array comparative genomic hybridization analysis (Agilent 180k microarray) showing the 1.23-Mb duplication in chromosomal region 1p13.3p13.2 (chr 1: 111,772,409_113,005,539 bp (hg19)) in proband's DNA compared to 2 control DNAs, in a mirror view. Left panel: blue line indicating the 12p11.21 position of the deletion on the chromosome whole view. Right panel: detailed view of the duplicated region. B: Familial pedigree of the patient with a neo-duplication in the Kv4.3 α subunit of the human cardiac fast transient outward K+ channel (KCND3). The patient's 2-year-old daughter also carries the duplication of KCND3. (+) represents gene-positive patients and black-filled symbol represents phenotype-positive patients. C: Twelve-lead electrocardiogram of the patient's daughter showing mild early repolarization pattern. D: Twenty-four-hour Holter monitoring showed augmentation of early repolarization pattern during nighttime compared to daytime. HeartRhythm Case Reports 2017 3, DOI: ( /j.hrcr ) Copyright © 2017 Heart Rhythm Society Terms and Conditions

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