Left Ventricular Hypertrophy With Pre-Excitation

Figures

• 

  Visual Summary. Case Presentation, Diagnosis, and Take-Home Points Although PRKAG2-associated cardiomyopathy phenotypically resembles sarcomeric HCM, the primary mechanism of LVH development is accumulation of myocardial glycogen stores. A diagnosis of PRKAG2-associated cardiomyopathy should be considered in patients with a personal or family history of both HCM and ventricular pre-excitation. HCM = hypertrophic cardiomyopathy; LGE = late gadolinium enhancement; LV = left ventricle; LVH = left ventricular hypertrophy; LVOT = left ventricular outflow tract; WPW = Wolff-Parkinson-White.

• 

  Figure 1. Presenting Electrocardiogram Electrocardiogram demonstrates diffuse left ventricular hypertrophy by voltage criteria (meeting Sokolow-Lyon and Cornell criteria), associated with deep T-wave inversions; a short PR interval (96 ms) with evidence of ventricular pre-excitation; and a mildly prolonged QRS duration of 120 ms.

• 

  Figure 2. Family Pedigree The patient's maternal grandmother had HCM and third-degree heart block requiring pacemaker implantation. Her mother was diagnosed with HCM and WPW syndrome. Her sister had HCM with WPW syndrome and an ICD. No male relatives were affected. The black arrow indicates the patient. HCM = hypertrophic cardiomyopathy; ICD = implantable cardioverter-defibrillator; WPW = Wolff-Parkinson-White.

• 

  Figure 3. Imaging Features of PRKAG2 Syndrome (A) Transthoracic echocardiogram parasternal long-axis view demonstrating diffuse left ventricular hypertrophy. (B) Continuous-wave Doppler interrogation of the left ventricular outflow tract demonstrating a peak resting gradient of 47 mm Hg. Cardiac magnetic resonance imaging showing (C) significant left ventricular hypertrophy and (D) late gadolinium enhancement demonstrating myocardial fibrosis within hypertrophied left ventricular segments.