Author + information
- Received January 16, 2013
- Revision received February 7, 2013
- Accepted February 12, 2013
- Published online August 27, 2013.
- Enrico Fabris, MD∗,
- Francesca Brun, MD∗,
- Andrea Giuseppe Porto, MD∗,
- Pasquale Losurdo, MSc∗,
- Laura Vitali Serdoz, MD∗,
- Massimo Zecchin, MD∗,
- Giovanni Maria Severini, PhD†,
- Luisa Mestroni, MD‡,
- Antonio Di Chiara, MD§ and
- Gianfranco Sinagra, MD∗
- ∗Cardiovascular Department, Ospedali Riuniti, and University of Trieste, Trieste, Italy
- †Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy
- ‡Cardiovascular Institute, University of Colorado, Aurora, Colorado
- §Department of Cardiology, Sant'Antonio Abate Hospital, Tolmezzo, Italy
A 17-year-old asymptomatic boy was referred to our hospital for family screening because of his father's unexplained left ventricular hypertrophy (LVH). The father received a pacemaker at 35 years of age for sick sinus syndrome. The electrocardiogram showed LVH and a short PR interval and seemed to show a delta-wave (A). Echocardiography showed mild asymmetrical LVH with posterolateral distribution (B, Online Video 1). Cardiac magnetic resonance imaging (C, Online Video 2) confirmed asymmetric LVH (maximal wall thickness of 13 mm). A few weeks later, he presented to the emergency department with sudden onset of palpitations. The electrocardiogram showed a supraventricular tachycardia with aberrant conduction (D). An electrophysiological study showed a posteroseptal accessory pathway, which was successfully ablated. Before the procedure, an intermittent third-degree atrioventricular block was observed (E), and a pacemaker was subsequently implanted. Genetic testing identified a missense mutation in the protein kinase, AMP-activated, noncatalytic, gamma-2 (PRKAG2) gene leading to an Arg302Glu substitution. As in this case, the PRKAG2 autosomal dominant cardiac syndrome may be commonly characterized by LVH, an accessory pathway, and progression to conduction disease requiring implantation of a pacemaker (1).
- Received January 16, 2013.
- Revision received February 7, 2013.
- Accepted February 12, 2013.
- American College of Cardiology Foundation