From Recurrent Syncope to Sudden Cardiac Death: Clinical Characteristics in a Chinese Patient Carrying a Plakophilin-2 Gene Mutation

We report a case of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) which illustrates the natural progression of disease in the absence of availability of an implanted cardiac defibrillator (ICD). Electrocardiograms and cardiac imaging show the progress of ARVC and these clinical milestones of disease are presented herein. 1. Background ARVC is a largely inherited cardiomyopathy that affects mostly young otherwise healthy individuals and is associated with an increased risk of sudden death [1]. The morphological and arrhythmogenic substrate of ARVC predominantly affects the right ventricle (RV) [2] and is characterized by progressive myocardial atrophy with subsequent replacement by fatty and fibrous tissue [3]. Accordingly, the clinical process is also progressive [3, 4]. Here we review the entire progression of a young patient with ARVC from recurrent syncope to sudden cardiac death in the absence of ICD. 2. Case Presentation An 18-year-old Chinese man was sent to the hospital after suffering syncope while playing basketball. After a 12-lead ECG revealed ventricular tachycardia (Figure 1) and a subsequent 24？hr Holter monitor and echocardiography revealed suggestive changes, ARVC was diagnosed according to the 1994 task force criteria [5], and the patient underwent VT ablation. After discharge, episodes of palpitation and syncope persisted during physical activity despite ablation. ICD therapy was strongly recommended to the family who ultimately declined for financial reasons. Bisolol daily and amiodarone were administered with eventual discontinuation of the amiodarone after one year. Episodes of palpitation and syncope disappeared with medical therapy, but the patient suffered sudden cardiac death (SCD) three years later while swimming at 22 years of age. 12-lead ECGs, 24？hr Holter monitoring, and echocardiography were recorded yearly during the 5-year followup. 12-lead ECG showed a markedly fractionated QRS and terminal S wave prolongation. The QRS duration was 130？ms with a large epsilon wave (Figure 2). Holter ECG revealed frequent multifocal PVCs (n3000–4000/24？h) and nonsustained VT with left bundle branch block morphology. His electrocardiogram and echocardiography worsened gradually from the onset of syncopal episodes to death. (Figure 3, Table 1). Holter ECG revealed frequent multifocal PVCs and nonsustained VT (Figure 4). Genetic testing affirmed the diagnosis through the identification of a PKP2 mutation (Figure 5). Table 1: Right ventricle size on echocardiography. Figure 1: Body surface 12-lead ECG documented in 2005. Figure 2: