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A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia  Carol A. Wittlieb-Weber, MD, Katrina M.

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Presentation on theme: "A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia  Carol A. Wittlieb-Weber, MD, Katrina M."— Presentation transcript:

1 A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia  Carol A. Wittlieb-Weber, MD, Katrina M. Haude, MS, CGC, Chin-To Fong, MD, Jeffrey M. Vinocur, MD  HeartRhythm Case Reports  Volume 2, Issue 1, Pages (January 2016) DOI: /j.hrcr Copyright © 2016 Heart Rhythm Society Terms and Conditions

2 Figure 1 An electrocardiogram done at 6 months of age demonstrating second-degree heart block with 3:2 conduction with alternating QRS morphology due to aberration. HeartRhythm Case Reports 2016 2, 32-35DOI: ( /j.hrcr ) Copyright © 2016 Heart Rhythm Society Terms and Conditions

3 Figure 2 Dysmorphic features manifested by our patient and felt to be consistent with oculodentodigital dysplasia included A: unusual curvature of the fingers; B: syndactyly of the toes; and C: sparse hair with prominent scalp veins. HeartRhythm Case Reports 2016 2, 32-35DOI: ( /j.hrcr ) Copyright © 2016 Heart Rhythm Society Terms and Conditions

4 Figure 3 Electrocardiograms done A: shortly after birth, demonstrating an atrial rhythm (likely sinus) with low-voltage QRS complexes; and B: several months later, demonstrating a regularly irregular rhythm with varying QRS morphology. C: Reformatted version of the latter tracing (B) shows an atrial rate of 150–155 bpm (visible P waves, arrows; inferred P waves, vertical lines) with probable second-degree heart block and distal conduction system disease. D: An electrocardiogram demonstrating the polymorphic ventricular tachycardia that was induced in the electrophysiology lab (study done at 2.5 years of age). HeartRhythm Case Reports 2016 2, 32-35DOI: ( /j.hrcr ) Copyright © 2016 Heart Rhythm Society Terms and Conditions

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