case_images: PMC11210389_01
case_images: Patient phenotypical pedigree. The patient's father of the patient died at age 40 due to congestive heart failure and the paternal grandfather died of endocarditis at age 54. The patient has 2 children with different mothers.
case_images: fcvm-11-1387063-g001.jpg
case_images: PMC11210389_01_fcvm-11-1387063-g001.jpg
case_images: F1
case_images: Additionally, the patient exhibited severe biatrial dilatation, mild mitral insufficiency, an intermediate likelihood of pulmonary hypertension, moderate tricuspid insufficiency, and right ventricular systolic dysfunction (Supplementary Figure S1). The patient has 3 children with two different mothers (Figure 1) (Supplementary Figures S1, S2).
case_images: Graphical description of the TTN variants. We identified 35 reported cases of TTN variants in the splicing regions (Table 1) and constructed a visual representation of the reported variants along TTN. Splicing variants are the lines below the image, the black line means there was a variation reported in that specific location. TTN bands are shown:Z-disc, I-band, A-band, M-band. There are 1 variant located in the Z-disk, 14 variants in the I-band and 11 variants in the A-band. The arrow indicates our reported variant. Furthermore, for 2 variants reported the location its unknown and therefore, are not included in the graph.
case_images: fcvm-11-1387063-g002.jpg
case_images: PMC11210389_01_fcvm-11-1387063-g002.jpg
case_images: F2
case_images: The patient has 3 children with two different mothers (Figure 1) (Supplementary Figures S1, S2).