Pleiotropic Phenotype of RYR2 Exon 3 Deletion: Biventricular Noncompaction and Malignant Arrhythmias.

Figures

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  Visual Summary. Timeline of RYR2 Exon 3 Deletion Syndrome Presentation and Management Summary of the patient's clinical course, including pregnancy-related arrhythmic presentation, postpartum diagnosis, electrophysiological findings, device implantation, ventricular fibrillation episode, genetic diagnosis, and family screening. ECG = electrocardiogram; EP = electrophysiology; ICD = implantable cardioverter-defibrillator; LVEF = left ventricular ejection fraction; MRI = magnetic resonance imaging; NSVT = nonsustained ventricular tachycardia; PVC = premature ventricular contraction; VF = ventricular fibrillation; VUS = variant of uncertain significance.

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  Figure 1. Resting 12-Lead Electrocardiogram Junctional rhythm at 60 beats/min, absent sinus P waves and ventricular bigeminy.

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  Figure 2. Echocardiography and Cardiac Magnetic Resonance Imaging (A and B) Apical 4-chamber and 3-chamber views in transthoracic echocardiography showing prominent trabeculations and deep intertrabecular recesses. (C and D) Cardiac magnetic resonance (steady-state free precession sequences) short and long axis confirming marked left ventricular dilation with extensive apical and mid-ventricular trabeculation, as well as right ventricular involvement.

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  Figure 3. Treadmill Exercise Stress Test (A) Baseline recording at rest before exercise. (B) During exercise at 5.4 km/h and 10% incline, showing frequent premature ventricular contractions and polymorphic nonsustained ventricular tachycardia without recovery of sinus rhythm. (C) After 2 minutes of active recovery (walking), persistence of junctional rhythm and ventricular ectopy.

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  Figure 4. Right Atrial Voltage Mapping Anterior (A) and posterior (B) views of the right atrium voltage map, demonstrating extensive low-voltage areas involving the entire atrial body, consistent with diffuse atrial myopathy.

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  Figure 5. Intracardiac Electrograms From the Dual-Chamber Implantable Cardioverter-Defibrillator (A) First delivered shock, which failed to terminate ventricular fibrillation. (B) Second delivered shock terminating the episode.