case_images: PMC9251305_01
case_images: Pedigree analysis and sequencing results. (A) Pedigree of the proband (arrow) and his family members with heterozygous FLNC mutations. The star symbol indicates the used WES. (B) Sanger sequencing confirmed a splicing mutation in FLNC, which was of maternal origin. It is highlighted in the red box. (C) Assessment of five prognostic risk factors for HCM.
case_images: fgene-13-894791-g001.jpg
case_images: PMC9251305_01_fgene-13-894791-g001.jpg
case_images: F1
case_images: The proband (III-2 in Figure 1A) was a 15-year-old male from Chinese. The proband's grandfather (I-3 in Figure 1A) died at 72 years due to cardiac disease. The proband's grandmother (I-4 in Figure 1A) did not have any cardiac disease. The proband's father (II-1 in Figure 1A) did not present any cardiac symptoms and was not investigated. The proband's mother (II-2 in Figure 1A) had a medical history of cardiac disease. Table 1). The proband's sister (III-1 in Figure 1A) was utterly normal from birth to adolescence and showed no cardiac symptoms, and her transthoracic echocardiogram showed normal cardiac function and geometry.
case_images: Echocardiography and electrocardiography in the proband (III-2). (A-C) Echocardiography and color Doppler showed enlargement of the left atrium, thickening of the interventricular septum at the end-diastole, and no outflow obstruction, EF 67%. (D) ECG showed that inferior and high lateral wall leads to ST-segment depression with T-wave inversion; right precordial leads to ST-segment elevation.
case_images: fgene-13-894791-g002.jpg
case_images: PMC9251305_01_fgene-13-894791-g002.jpg
case_images: F2
case_images: His electrocardiogram showed ST-segment depression in I, II, aVF, aVL, and V5-V6 leads, ST-segment elevation in V1-V4 leads, and T-wave inversion in II, aVF, and V2-V6 leads, QT interval prolongation, left atrial enlargement, and R/S ratio > 1 in V1 and V2 leads (Figure 2D).
case_images: Echocardiography and electrocardiography in the proband's mother (II-2). (A-C) Echocardiography and color Doppler showed enlargement of the left atrium, thickening of the interventricular septum at the end-diastole, and no outflow obstruction, EF 62%. (D) ECG showed that inferior and high lateral wall leads to ST-segment depression, T-wave low flat, or T-wave inversion.
case_images: fgene-13-894791-g003.jpg
case_images: PMC9251305_01_fgene-13-894791-g003.jpg
case_images: F3
case_images: In this investigation, her electrocardiogram showed ST-segment depression in I, II, III, aVF, and V3-V6 leads, T-wave low flat in I, II, avF, and V3-V6 leads, with T-wave inversion in III lead (Figure 3D).