case_images: PMC10702761_01
case_images: ECG and imaging characteristics of the proband. (A) Standard 12-lead ECG; (B) fontaine-lead ECG. Note the epsilon wave (arrows) observed only with F-ECG in FIII and aVF. (C) Echocardiography indicated RVOT enlargement; (D) echocardiography indicated LA enlargement.
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case_images: PMC10702761_01_fcvm-10-1258807-g001.jpg
case_images: F1
case_images: An initial assessment of the cardiovascular system was performed through an electrocardiogram (ECG), which showed premature ventricular contractions (PVCs) with a wave morphology consistent with a right ventricle (RV) origin and T wave inversion in V1 (Figure 1A). A Fontaine lead ECG(F-ECG) indicated epsilon wave FIII and aVF (Figure 1B). Moreover, echocardiography demonstrated an enlarged right ventricle (RVOT 34 mm) and left atrial (LA 29 mm) (Figures 1C,D).
case_images: Suppression with exercise: 12-lead ECG during treadmill exercise testing is shown. (A) 12-lead ECG at the beginning of exercise; (B) 12-lead ECG during exercise (05:50); (C) 12-lead ECG during exercise (at peak exercise after 10 min). (D) 12-lead ECG during the recovery phase (02:30) of exercise. Note the suppression of PVCs during exercise.
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case_images: PMC10702761_01_fcvm-10-1258807-g002.jpg
case_images: F2
case_images: Subsequent treadmill exercise electrocardiography tests under the Bruce protocol were done and revealed exercise-induced PVCs of RVOT origin and the PVCs were suppressed at higher heart rates (Figure 2).
case_images: Pedigree and CDH2 mutation analysis. (A) The pedigree of the patient. Squares indicated male family members and circles denoted female family members. (B) Sanger sequencing shows a heterozygous missense mutation, c.547C > G (p. P183A), in exon 5 of the CDH2 gene of the proband for the elder brother and father. The arrow indicates the mutation site. (C) The predicted 3D structure of CDH2 protein with wild-type A and mutated type B(pGenTHREADER). The yellow color indicates the functional region located by the mutated amino acid (183Pro-Ala) which is highlighted by the red color.
case_images: fcvm-10-1258807-g003.jpg
case_images: PMC10702761_01_fcvm-10-1258807-g003.jpg
case_images: F3
case_images: P183A), which was detected by WES and confirmed by subsequent Sanger sequencing (Figures 3A,B). P183A het) mutation did not change the length of the mutation-located functional region and the 3-dimension structure of its around residues (Figure 3C). This variant was also verified in his father and elder brother who were asymptomatic (Figures 3A,B) but epsilon waves were confirmed on their F-ECGs.