Left Ventricular Hypertrophy With Pre-Excitation: Thinking Beyond the Usual Hypertrophic Cardiomyopathy Diagnosis.
Left Ventricular Hypertrophy With Pre-Excitation: Thinking Beyond the Usual Hypertrophic Cardiomyopathy Diagnosis.
Where did the research take place?
The study site has not been established. Author addresses may differ from where the research occurred.
Hopkins, US · Author affiliation
Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, USA.Location evidence
Baltimore, US · Author affiliation
Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, USA.Location evidence
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Original abstract
BACKGROUND: PRKAG2 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.