CTICasesPKP2-Related Glycogen Storage Disease with Cardiac Hypertrophy and Pre-excitation
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Imaging findings
A chest X-ray showed cardiomegaly (a big heart) with normal pulmonary vascularity and possibly some tortuosity or dilatation of the ascending aorta. An echo showed cardiac hypertrophy. Cardiac MRI demonstrated significant hypertrophy of the left ventricle (up to almost 3 cm thickness) and mild right heart hypertrophy, with preserved function. Delayed enhancement was seen very close to the AV node and in the lateral wall.
Key takeaways
This 59-year-old male presented with syncope and a 30-second asystolic pause. His ECG showed pre-excitation (Wolff-Parkinson-White syndrome). He was suspected to have PKP2-related glycogen storage disease, a genetic abnormality characterized by cardiac hypertrophy and pre-excitation. The delayed enhancement on MRI correlated with the two different excitation pathways identified during electrophysiology.
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