(FIT)-Module 4 Workshop 6: Electrocardiographic and Electrophysiological Correlations-Poole Case 10 Answer

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Video Summary

PRKAG2 is a rare disorder that can be misdiagnosed as hypertrophic cardiomyopathy. It is characterized by cardiac hypertrophy, pre-excitation, atrial fibrillation, and conduction disturbances. It is caused by a missense mutation in the G2 subunit of AMP-activated protein kinase. Histologically, it exhibits non-sarcomeric hypertrophy with minimal fibrosis and large cytosolic vacuoles. The early course includes sharp PR interval and bizarre QRS patterns. Patients may also experience paroxysmal SVTs and atrial arrhythmias. In later stages, they can develop progressive LVH, diastolic heart failure, and may require a pacemaker. Sudden death is uncommon. Genetic testing and biopsy can help differentiate it from hypertrophic cardiomyopathy.

Keywords

PRKAG2

cardiac hypertrophy

AMP-activated protein kinase mutation

atrial fibrillation

hypertrophic cardiomyopathy differentiation