PMC9120596_01
Pedigrees and diagnosis of the families assessed. Squares indicate male family members, circles indicate female family members. NE:Genomic DNA was not examined. (+/-): Haplotype. DCM, Dilated cardiomyopathy; PVC, Premature ventricular contractions.
fcvm-09-822150-g0001.jpg
PMC9120596_01_fcvm-09-822150-g0001.jpg
F1
The proband (Figure 1: II-6), a 49-year-old woman, was admitted to a hospital with a 14-year history of recurrent chest distress, aggravated by palpitations for 4 days.
Image of case 1 (Figure 1:II-6). (A) Chest X-ray showed congestion with a cardiothoracic ratio of 80%. (B) Echocardiogram revealed an enlarged left ventricle. LVDd, Left ventricular end-diastolic diameter. (C,D): Electrocardiogram (ECG) comparison between the normal state and frequent premature ventricular contractions.
fcvm-09-822150-g0002.jpg
PMC9120596_01_fcvm-09-822150-g0002.jpg
F2
The proband (Figure 1: II-6), a 49-year-old woman, was admitted to a hospital with a 14-year history of recurrent chest distress, aggravated by palpitations for 4 days. A conventional echocardiogram showed a large left ventricular end-diastolic diameter (LVEDD) of 69 mm and an LV ejection fraction (LVEF) of 40% (Figure 2).
Identification of the SCN5A variant. Sanger sequence SCN5A in a wild-type (WT) subject and proband confirms the presence of the A204E variation. The variant nucleotide residue is indicated by a red arrow. The same nucleotide residue of WT is indicated by a green arrow.
fcvm-09-822150-g0003.jpg
PMC9120596_01_fcvm-09-822150-g0003.jpg
F3
The proband (Figure 1: II-6), a 49-year-old woman, was admitted to a hospital with a 14-year history of recurrent chest distress, aggravated by palpitations for 4 days. TTN p.I1830T and ACTN2 p.M283V were considered "uncertain significance." Figure 3 shows the SCN5A variant of the DNA analyses. The proband's parents, brother, and niece were not tested because they had all died before this time point.
Image of case 3 (III-7). (A) ECG before heart transplantation showed frequent ventricular premature contractions with narrow QRS. (B) Echocardiogram findings of changes in heart size before and after heart transplantation. (C) X-ray findings of changes in heart size before and after heart transplantation. (D) The enlarged specimen of the heart. (E,F) ECG in the first and second years after heart transplantation,T wave was inverted.
fcvm-09-822150-g0004.jpg
PMC9120596_01_fcvm-09-822150-g0004.jpg
F4
The proband (Figure 1: II-6), a 49-year-old woman, was admitted to a hospital with a 14-year history of recurrent chest distress, aggravated by palpitations for 4 days. The LVEDD was 83 mm, and the LVEF was 24% (Figure 4).
Case 3 (III-7) vs. normal myocardial tissue. (A) Hematoxylin-eosin staining (HE staining),cardiomyocyte hypertrophy with large, malformed nuclei,some myocardial cells had vacuolated cytoplasm. (B) HE staining,Normal myocardial tissue. (C) Periodate-Scherff staining (PAS staining), red PAS staining-positive material in the cytoplasm of cardiomyocytes. Arrows indicate intracellular glycogen accumulation. (D) PAS staining, Normal myocardial tissue, red PAS staining-negative.
fcvm-09-822150-g0005.jpg
PMC9120596_01_fcvm-09-822150-g0005.jpg
F5
The proband (Figure 1: II-6), a 49-year-old woman, was admitted to a hospital with a 14-year history of recurrent chest distress, aggravated by palpitations for 4 days. TTN p.I1830T and ACTN2 p.M283V were considered "uncertain significance." Figure 3 shows the SCN5A variant of the DNA analyses. The proband's parents, brother, and niece were not tested because they had all died before this time point. The periodate-Scherff staining (PAS staining) found red PAS staining-positive material in the cytoplasm of cardiomyocytes (Figure 5).
Image of case 4 (II-4) and 5 (III-4). (A,B) Case 4 and Case 5 presented a normal left ventricle on echocardiogram. (C) ECG of case 4 (II-4) showed atrial rhythm, PR was shorter than 0.12s. (D) ECG of case 5 (III-4) showed frequent ventricular premature contractions with narrow QRS.
fcvm-09-822150-g0006.jpg
PMC9120596_01_fcvm-09-822150-g0006.jpg
F6
The proband (Figure 1: II-6), a 49-year-old woman, was admitted to a hospital with a 14-year history of recurrent chest distress, aggravated by palpitations for 4 days. Her ECG showed atrial rhythm; the PR was shorter than 0.12 s, and the echocardiogram showed LVEDD 43 mm and LVEF 63% (Figure 6).