PMC9523138_01
Echocardiogram of the patient. The echocardiogram showed thickened interventricular septum and left ventricular posterior wall. Blue cross marked part: interventricular septum, thickness was 1.4 cm; Green cross marked part: posterior wall of left ventricle, thickness was 1.4 cm; Yellow scale bar shows length in cm.
fcvm-09-899283-g0001.jpg
PMC9523138_01_fcvm-09-899283-g0001.jpg
F1
However, during hospitalization, her echocardiogram (Figure 1) indicated a thickness of the interventricular septum (basal segment: 9 mm; middle segment: 14 mm; apical segment: 14 mm), left ventricular posterior wall (14 mm), and apical segment of the anterolateral wall (11 mm). Holter monitor and ECG (Supplementary Figure 1) showed a short PR interval (76 ms), "delta wave," and lowered ST segment (V4-V6), suggesting preexcitation of the ventricle.
Clinical and genetic characteristics of the pedigree. (A) Family tree of the cardiac-only Danon disease pedigree. (B) Sanger sequencing of the family. Colored blocks indicate evolutionary conservation of the cluster across multiple species.
fcvm-09-899283-g0002.jpg
PMC9523138_01_fcvm-09-899283-g0002.jpg
F2
However, her mother, father, uncle, and aunt did not have the same mutation (Figure 2A). The patient's family refused echocardiogram and genetic testing for the patient's brother (Figure 2A).