Fig. 2
Clinical characteristics of the proband in this pedigree. a Pictures of skin rashes in the groin and on the back of the patient (Capillary balloons dilated on the surface of the skin are distributed as clusters or grape-like spots. The rash can be purplish red or red black when it is accompanied by venous bleeding, and excessive skin rash can be hyperkeratosis) and histopathology of skin biopsy (A wide range of crystallized sugar sphingomyelin deposits in the tissue can be observed under the microscope, and the histopathological diagnosis is angiokeratomas). b The electrocardiogram of the patient indicating atrial fibrillation rhythm, high voltage in the left ventricular, and T wave inversion in all precordial leads. c Cardiac magnetic resonance imaging showing apparent left ventricle hypertrophy at the apical region and the septum. The upper two pictures represent the sagittal plane of the heart, and the two lower figures show the coronal plane of the heart