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case_images: (A) Pre-hospital ECG showed ventricular tachycardia with a heart rate of 250 beats/min. (B) Admission ECG.
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case_images: An electrocardiogram (ECG) indicated ventricular tachycardia, with a left bundle branch block-like pattern indicating right ventricular outflow tract (RVOT) origin and a heart rate of 250 beats/min (Figure 1A). The ECG on admission was normal (Figure 1B).
case_images: (A) The left ventricular long-axis four-chamber view showed localized wall thinning of the RV apex (bold arrow) and abnormal echo in the posterior basal segment (thin arrow). (B) The short-axis two-chamber view of the left ventricle indicated abnormal wall motion and localized dilation during diastole in RV, similar to a mini ventricular aneurysm (black arrow).
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case_images: Furthermore, subtle regional wall motion and echo abnormalities were found in the apex of the RV's anterior wall (Figure 2).
case_images: Intracardiac electrophysiological studies of right ventricular stimulation easily induced rapid ventricular tachycardia with a heart rate of 250-280 beats/min originating from the RV with various forms. (A) Body surface electrocardiogram, paper speed 25mm/s. (B) Intracardiac electrogram, paper speed 100mm/s.
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case_images: Intracardiac electrophysiological studies of RV stimulation easily induced rapid ventricular tachycardia with a heart rate of 250-280 beats/min originating from the RV with various forms (Figure 3).
case_images: Myocardial MRI showed that the segmental RV wall was locally thinned, and the abnormal signal indicated fat infiltration (bold arrow). (A) Left ventricular long-axis four-chamber view, bright blood FIESTA sequence. (B) Short axis section of the left ventricle, black blood Double IR sequence.
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case_images: The anterior wall was slightly thinned, and there was a signal change, suggesting myocardial fat infiltration (Figure 4).
case_images: Sequencing results of the DSG2 mutation. (A) The father of the proband did not carry the pathogenic gene. (B) The proband, his mother and sister carried a mutation in the DSG2 gene. Sequence chromatogram indicated a G to A transition of nucleotide 445.
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case_images: Arg217Profs Ter8) (Figures 5 and 6). Moreover, the pedigree analysis showed that the patient's mother and sister carried the same DSG2 mutation, while his father did not (Figures 5 and 7).
case_images: Sequencing results of the PRRT2 mutation. (A) The proband and his father carried a mutation in the PRRT2 gene. (B) The mother and sister of the proband did not carry the pathogenic gene. Sequence chromatogram indicated a C loss of nucleotide 641.
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case_images: Arg217Profs Ter8) (Figures 5 and 6). On the contrary, the patient's father carried the same mutation of PRRT2, while his mother and sister did not (Figures 6 and 7).
case_images: The pedigrees of the proband's family affected by PKD and ARVC in our study. Symbols with a slash through them indicate deceased individuals.
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case_images: Moreover, the pedigree analysis showed that the patient's mother and sister carried the same DSG2 mutation, while his father did not (Figures 5 and 7). On the contrary, the patient's father carried the same mutation of PRRT2, while his mother and sister did not (Figures 6 and 7).