case_images: PMC9691660_01
case_images: PMC9691660_02
case_images: (A) ECG showed sinus rhythm, incomplete right bundle branch block, Ptf-V1 < -0.04 mm s (the black arrow) and biphasic P waves (the red arrow). (B) Echocardiogram showed biatrial enlargement, left atrium obvious (LA: 32 mm, RA: 30 mm) and decreased diastolic function (E/A = 2.6). (C) Transverse section of CMR showed biatrial enlargement slightly.
case_images: fcvm-09-1058341-g001.jpg
case_images: PMC9691660_02_fcvm-09-1058341-g001.jpg
case_images: F1
case_images: E Peak deceleration time 130 ms; Constant volume diastolic time 49 ms), moderate mitral valve regurgitation and left ventricular ejection fraction of 51.8%. Except for bilateral enlargement, cardiac magnetic resonance (CMR) indicated no abnormalities (see Figure 1).
case_images: The ECG at the time of the AED discharge indicated ventricular fibrillation.
case_images: fcvm-09-1058341-g002.jpg
case_images: PMC9691660_02_fcvm-09-1058341-g002.jpg
case_images: F2
case_images: The ECG at the time of the AED discharge indicated ventricular fibrillation (see Figure 2).
case_images: (A) Pedigree analysis of the family of patient. The arrow points out the proband. Circles correspond to female. Squares correspond to male. The mutation was indicated -/- if negative. (B) Sanger sequencing revealed a heterozygous missense mutation [c.611(exon8)G>A,p.R204H] of TNNI3 in the proband boy and his parents did not carry the mutation.
case_images: fcvm-09-1058341-g003.jpg
case_images: PMC9691660_02_fcvm-09-1058341-g003.jpg
case_images: F3
case_images: TNNI3 which was not detected in his biological parents and de novo (see Figure 3). This mutation located in exon 19 of TNNI3 which was conserved.