case_images: PMC10694197_01
case_images: The patient's examination results. (A,B) Show the echocardiographic results of the patient's heart. (C,D) Show the images from a cardiac MRI examination. (E,F) show the pathological examination of recipient heart specimens from patients.
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case_images: PMC10694197_01_fcvm-10-1288328-g001.jpg
case_images: F1
case_images: Moreover, his left ventricular function had deteriorated (Figures 1A, B). Cardiac magnetic resonance imaging (MRI) revealed a small amount of delayed enhancement in the left ventricular septal wall, consistent with dilated cardiomyopathy and tricuspid insufficiency (Figures 1D, E). Hematoxylin and eosin (HE) staining revealed focal interstitial fibrous hyperplasia with vitreous change, mucinous degeneration, angiogenesis, and dilated muscle red tissue (Figures 1E, F).
case_images: The patient's mutation site.
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case_images: PMC10694197_01_fcvm-10-1288328-g002.jpg
case_images: F2
case_images: WES revealed a de novo heterozygous mutation TNNT2 (NM_001001431.2c.769G>A:p.E257K) in the patient, which was absent in the patient's parents (Figure 2).