Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease- associated large deletion in the SCN5A gene Anders Krogh Broendberg,

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Presentation transcript:

Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease- associated large deletion in the SCN5A gene Anders Krogh Broendberg, MD, Lisbeth Noerum Pedersen, MSc, PhD, Jens Cosedis Nielsen, MD, DMSc, PhD, Henrik Kjaerulf Jensen, MD, DMSc, PhD HeartRhythm Case Reports Volume 2, Issue 3, Pages 261-264 (May 2016) DOI: 10.1016/j.hrcr.2016.02.008 Copyright © 2016 Heart Rhythm Society Terms and Conditions

Figure 1 Family pedigree. Index patient is marked with an arrow. HeartRhythm Case Reports 2016 2, 261-264DOI: (10.1016/j.hrcr.2016.02.008) Copyright © 2016 Heart Rhythm Society Terms and Conditions

Figure 2 A: A 12-lead electrocardiogram (ECG) from the index patient with type 1 pattern diagnostic for Brugada syndrome. B: Implantable cardioverter-defibrillator (ICD) interrogation in the index patient, with ventricular fibrillation eliciting appropriate and effective ICD therapy. C: A 12-lead ECG from the son of the index patient. HeartRhythm Case Reports 2016 2, 261-264DOI: (10.1016/j.hrcr.2016.02.008) Copyright © 2016 Heart Rhythm Society Terms and Conditions