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.

Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: the PRKAG2 cardiac syndrome.

Fabris E;Losurdo P;SINAGRA, GIANFRANCO
2013

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11368/2759758
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