PMC8110900_01
Cardiac MRI showing left ventricular hypertrophy with no late enhancement of Gadolinium in patient 1 (III - 13, proband).
fgene-12-657824-g0001.jpg
PMC8110900_01_fgene-12-657824-g0001.jpg
F1
There was no late gadolinium enhancement (Figure 1).
PMC8110900_02
Cardiac MRI showing left ventricular hypertrophy in patient 2 (III - 16).
fgene-12-657824-g0002.jpg
PMC8110900_02_fgene-12-657824-g0002.jpg
F2
CMR showed evidence of LV hypertrophy with IVS and PW thickness of 19 and 8 mm, respectively (Figure 2).
Family tree (pedigree). The index case and his sister are shown with arrows.
fgene-12-657824-g0003.jpg
PMC8110900_02_fgene-12-657824-g0003.jpg
F3
A pedigree of 115 individuals across four generations was drawn (Figure 3) with relevant clinical, enzymatic and genetic data (Table 2) (Germain et al.,).