PMC9441750_01
Sanger sequencing analysis performed in our patient (black square) revealed a two-base deletion (c.558_559delAG) in exon 8 of the CLN3 gene [(A) red arrow] and a splice-site mutation (c.461-1G>C) upstream exon 7 [(B) red arrow]. Segregation analysis showed that the father (empty square) carries the c.558_559delAG mutation (A) and a wild-type allele (C) whereas the mother (empty circle) has the splice-site mutation (B) and a wild-type allele (C). Base positions are referred to as the NM_000086 reference sequence (Ensembl genome browser, https://www.ensembl.org/).
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F1
DNA studies revealed biallelic mutations in CLN3, the c.558_559delAG inherited from the father and the c.461-1G>C on the maternal allele (Figure 1).
Concentric left ventricular hypertrophy of basal and mid segments on cine images.
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F2
BSA, and systolic function (EF 69%), with hypertrophy of basal inferior interventricular septum (12 mm) but maintaining indexed LV mass in reference values (74 g/m2) (Figure 2). Before the administration of the contrast agent, a sequence MOLLI SSFP for native T1 mapping was performed.
Segmental and global low native T1 mapping at MOLLI images. On the bottom right square, AHA segmentation with T1 native values of each segment. Areas of low native T1 are highlighted in blue.
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F3
Native T1 values were calculated by dedicated postprocessing software (Circle Cardiovascular Imaging, Alberta, Canada) and significantly shortened than normal values of the Laboratory were obtained (global T1 of LV was 885 ms, normal value >= 928 ms) (Figure 3).
Late gadolinium enhancement (LGE) images without hyperintense myocardial areas at the left ventricle.
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F4
No areas of LGE (defined as hyperintense areas after administration of gadoteric acid >= 6 standard deviations than a region of interest in the background) were detected in the myocardium, covering the entire left ventricle from the mitral valve plane to the apex (Figure 4).