PMC9691660_01
PMC9691660_02
(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.
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F1
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).
The ECG at the time of the AED discharge indicated ventricular fibrillation.
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F2
The ECG at the time of the AED discharge indicated ventricular fibrillation (see Figure 2).
(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.
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F3
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.