ArticleJACC. Case reports2026
Left Ventricular Hypertrophy With Pre-Excitation: Thinking Beyond the Usual Hypertrophic Cardiomyopathy Diagnosis.
Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPRKAG2 cardiomyopathy is a genetic cardiomyopathy that phenotypically resembles hypertrophic cardiomyopathy (HCM) and results from myocardial glycogen accumulation. In addition to left ventricular hypertrophy (LVH), PRKAG2 cardiomyopathy is associated with ventricular pre-excitation, cardiac conduction disease, and ventricular tachyarrhythmias. CASE SUMMARY: A 34-year-old woman with a family history of HCM and Wolff-Parkinson-White syndrome presented with exertional dyspnea, chest discomfort, and near-syncope. Electrocardiogram revealed LVH, T-wave inversions, and pre-excitation. Echocardiography demonstrated severe LVH with outflow tract obstruction. Based on family history, LVH, and pre-excitation, PRKAG2 syndrome was suspected and later confirmed by genetic testing. DISCUSSION: PRKAG2 cardiomyopathy results from glycogen accumulation rather than sarcomeric hypertrophy. This case highlights the diagnostic importance of electrocardiography-detected pre-excitation in a patient with severe LVH, raising suspicion for nonsarcomeric HCM. TAKE-HOME MESSAGES: Consider PRKAG2 mutations in HCM patients with pre-excitation or conduction disease. Early genetic diagnosis guides management and informs family screening.
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