PMC8128131_01
(A) Pre-hospital ECG showed ventricular tachycardia with a heart rate of 250 beats/min. (B) Admission ECG.
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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).
(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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Furthermore, subtle regional wall motion and echo abnormalities were found in the apex of the RV's anterior wall (Figure 2).
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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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).
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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The anterior wall was slightly thinned, and there was a signal change, suggesting myocardial fat infiltration (Figure 4).
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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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).
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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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).
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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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).