Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

Lien Lam; Jodie Ingles; Christian Turner; Michael Kilborn; Richard D Bagnall; Christopher Semsarian

doi:10.1016/j.hrcr.2015.01.022

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

HeartRhythm Case Rep. 2015 Apr 30;1(3):141-145. doi: 10.1016/j.hrcr.2015.01.022. eCollection 2015 May.

Authors

Lien Lam¹, Jodie Ingles^{1

2}, Christian Turner³, Michael Kilborn^{1

2

4}, Richard D Bagnall^{1

2}, Christopher Semsarian^{1

2

4}

Affiliations

¹ Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.
² Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
³ The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴ Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.

No abstract available

Keywords: Arrhythmias; CMR, cardiac magnetic resonance; CPVT, catecholaminergic polymorphic ventricular tachycardia; Cardiac arrest; ECG, electrocardiogram; Exome sequencing; Genetics; ICD, implantable cardioverter-defibrillator; LQTS, long QT syndrome; MYH6, myosin heavy chain 6 gene; PPM, permanent pacemaker; SNV, single nucleotide variant; Sinus node dysfunction.

Publication types

Case Reports