Biventricular Arrhythmogenic Cardiomyopathy Due to a PKP2 Mutation with Severe Heart Failure and Multifocal Thromboembolism as the Clinically Apparent Presentation: A Case Report

Figures

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  Timeline of clinical events (Biventricular Arrhythmogenic Cardiomyopathy with PKP2 Mutation). Schematic representation of the clinical course from initial symptoms to follow-up. The patient presented with progressive heart failure, followed by venous thrombosis and subsequent cerebellar infarction despite anticoagulation. Multimodality imaging and genetic testing confirmed the diagnosis of arrhythmogenic cardiomyopathy due to a PKP2 mutation. Treatment included guideline-directed medical therapy, anticoagulation, and catheter ablation, resulting in partial reverse remodelling.

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  Figure 1. Cardiac magnetic resonance imaging. (A) Four-chamber cine view demonstrating biventricular dilation with severely reduced systolic function. (B) Late gadolinium enhancement short-axis view showing patchy subepicardial and mid-wall enhancement (arrows), predominantly involving the lateral wall and right ventricular insertion point. (C) T2-weighted double inversion recovery imaging demonstrating increased myocardial signal intensity (arrows), consistent with myocardial oedema. (D) T2 mapping demonstrating increased myocardial T2 values (arrows), predominantly involving the lateral and inferolateral walls. Elevated native T2 relaxation times (Native T2 = 68 ms) (E) Native T1 mapping showing elevated myocardial T1 values (arrows), consistent with diffuse fibrosis. Quantitative analysis demonstrated elevated native T1 (1107 ms) and extracellular volume (42%). (F) Long-axis late gadolinium enhancement view confirming subepicardial enhancement involving the lateral wall, supporting a non-ischaemic pattern of myocardial fibrosis.

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  Figure 2. Heterozygous gene PKP2 mutation. The p.Gln167Ter variant is classified as pathogenic based on established the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) criteria and supports the diagnosis of arrhythmogenic cardiomyopathy.

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  Figure 3. Electrocardiographic timeline. (A) A 12-lead electrocardiography and Holter electrocardiography before ablation demonstrating a high burden of premature ventricular complexes (15.7%), inverted T waves in leads V1–V3 (a major repolarization criterion), low QRS voltages in limb leads (a minor criterion for left ventricular involvement). (B) Post-ablation electrocardiography demonstrating persistent premature ventricular complexes at rest and an increased burden during ambulation, including ventricular couplets. (C and D) Follow-up electrocardiography demonstrating persistent premature ventricular complexes at rest and an increased burden during ambulation, including ventricular couplets.