1. Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: the PRKAG2 cardiac syndrome
- Author
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Fabris E, Brun F, Porto AG, Losurdo P, Vitali Serdoz L, Zecchin M, Severini GM, Mestroni L, Di Chiara A, SINAGRA, GIANFRANCO, Fabris, E, Brun, F, Porto, Ag, Losurdo, P, Vitali Serdoz, L, Zecchin, M, Severini, Gm, Mestroni, L, Di Chiara, A, and Sinagra, Gianfranco
- Subjects
Male ,Pacemaker, Artificial ,Adolescent ,cardiac hypertrophy ,Mutation, Missense ,AMP-Activated Protein Kinases ,Magnetic Resonance Imaging ,PRKAG2 ,Accessory Atrioventricular Bundle ,Electrophysiology ,Electrocardiography ,Echocardiography ,Heart Conduction System ,accessory pathway ,Catheter Ablation ,Tachycardia, Supraventricular ,Humans ,Hypertrophy, Left Ventricular ,Atrioventricular Block - Abstract
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.
- Published
- 2013