PMC9251305_01
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.
fgene-13-894791-g001.jpg
PMC9251305_01_fgene-13-894791-g001.jpg
F1
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.
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.
fgene-13-894791-g002.jpg
PMC9251305_01_fgene-13-894791-g002.jpg
F2
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).
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.
fgene-13-894791-g003.jpg
PMC9251305_01_fgene-13-894791-g003.jpg
F3
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).