Cardiac Hypertrophy, Accessory Pathway, and Conduction System Disease in an Adolescent

• DOI: 10.1016/j.jacc.2013.02.099
• Publication Date: 2013-06-27T03:47:54Z
• Authors: Enrico Fabris; Francesca Brun; Andrea Giuseppe P...; Pasquale Losurdo; Laura Vitali Serdoz; Massimo Zecchin; Giovanni Maria Se...; Luisa Mestroni; Antonio Di Chiara; Gianfranco Sinagra
• Keywords: Male; 0301 basic medicine; Pacemaker, Artificial; Adolescent; cardiac hypertrophy; Mutation, Missense; AMP-Activated Protein Kinases; PRKAG2; Magnetic Resonance Imaging; Accessory Atrioventricular Bundle; 3. Good health; Electrophysiology; Electrocardiography; 03 medical and health sciences; cardiac hypertrophy; PRKAG2; accessory pathway; Echocardiography; Heart Conduction System; Catheter Ablation; Tachycardia, Supraventricular; Humans; Hypertrophy, Left Ventricular; accessory pathway; Cardiology and Cardiovascular Medicine; Atrioventricular Block

We present the case of PRKAG2 cardiac syndrome, a rare autosomal-dominant genetic disease characterized by peculiar clinical and electrophysiological abnormalities. We clearly show through the images the peculiar clinical features that should raise suspicion of a mutant PRKAG2 gene. Indeed, together with an accurate clinical and instrumental evaluation, genetic analysis can contribute to a correct diagnosis in order to promptly treat and prevent the complications of the disease.