case_images: PMC10715418_01
case_images: PMC10715418_02
case_images: PMC10715418_03
case_images: Characteristics of Doppler echocardiography. (A) All four ventricles of the heart were enlarged, and the left ventricle was prominent. (B) Left ventricular systolic dysfunction was low. All the parents were normal.
case_images: fped-11-1291609-g001.jpg
case_images: PMC10715418_03_fped-11-1291609-g001.jpg
case_images: F1
case_images: Doppler echocardiography showed refractory low ejection fraction (EF: 37.3%), cardiac enlargement and cardiac insufficiency, mild pulmonary hypertension, and mitral and tricuspid insufficiency with mild valve regurgitation (Figures 1A,B).
case_images: PMC10715418_04
case_images: Whole exon sequencing. (A) Whole-exome sequencing showing a novel heterozygous missense mutation [c.544G>A(p.Glu182Lys)] in the TNNI3 gene in the patient. (B) (Father) and (C) (mother) are all wild-type and normal.
case_images: fped-11-1291609-g002.jpg
case_images: PMC10715418_04_fped-11-1291609-g002.jpg
case_images: F2
case_images: TNNI3 gene (chromosomal position CHR 19:55665403, reference genome HG19): c.544G>A(p.Glu182Lys) (Figure 2A). This mutation was a missense mutation, that had a very low frequency in the reference population database and was not included in the dbSNP, 1,000 Genomes, and Genome Aggregation Database. Neither of the parents had the same mutation (Figures 2B,C).
case_images: PMC10715418_05