case_images: PMC9523138_01
case_images: 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.
case_images: fcvm-09-899283-g0001.jpg
case_images: PMC9523138_01_fcvm-09-899283-g0001.jpg
case_images: F1
case_images: 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.
case_images: 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.
case_images: fcvm-09-899283-g0002.jpg
case_images: PMC9523138_01_fcvm-09-899283-g0002.jpg
case_images: F2
case_images: 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).