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EP CASE EXPRESS
doi:10.1093/europace/euv221 Online publish-ahead-of-print 1 September 2015
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Variable primary phenotypic manifestations in a rare familial form of Wolff –Parkinson –White syndrome and hypertrophic cardiomyopathy Katrine M. Mu¨llertz* and Henrik K. Jensen Department of Cardiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus DK-8200, Denmark
* Corresponding author. Tel: +45 30613545, E-mail address:
[email protected]
We describe different primary phenotypic manifesB A tations of PRKAG2-gene heart disease in a three-generation family. The proband presented with atrial fibrillation, her daughter with Wolff– Parkinson–White, and her mother with AV block. The index person was only 40 years old when she was presenting with paroxysmal atrial fibrillation. Electrocardiogram (ECG) showed a short PR interval suggestive of ventricular pre-excitation (Figure, panel A). However, an electrophysiology study demonstrated no accessory pathways. Her daughter had suffered from recurrent syncopes and episodes of tachycardia since the age of 16. The ECG also showed a short PR interval suggesting ventricular pre-excitation, but unlike her mother an electrophysiology study revealed accessory pathways. Her grandmother suffered from syncopes and atrioventricular (AV) block requiring a DDD pacemaker implantation. Echocardiographic examination revealed marked left ventricular hypertrophy (Figure, Panel B), initially being misinterpreted as hypertensive heart disease. Several years later left ventricular hypertrophy also developed in the index patient and her daughter and PRKAG2-gene heart disease now became evident. Genetic testing verified the R302Q mutation in PRKAG2-gene in the index patient, her daughter, and her mother. This case report illustrates the phenotypic heterogeneity in mutational PRKAG2-gene heart disease and emphasizes the importance of considering rare causes of hypertrophic cardiomyopathy in patients presenting with tachycardia, pre-excitation, and AV block. V
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The full-length version of this report can be viewed at: http://www.escardio.org/Guidelines-&-Education/E%E2%80%93learning/Clinicalcases/Electrophysiology/EP-Case-Reports.
Published on behalf of the European Society of Cardiology. All rights reserved. & The Author 2015. For permissions please email:
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