PMC6466957_01
Serial electrocardiographic changes. (a) In 2000: PR interval 160 ms, LVH criteria (Sokolow-Lyon index) 28 mm. (b) In 2003: PR interval 160 ms, LVH criteria (Sokolow-Lyon index) 36 mm. (c) In 2007: PR interval 160 ms, LVH criteria (Sokolow-Lyon index) 38 mm. (d) In 2008: PR interval 120 ms, LVH criteria (Sokolow-Lyon index) 47 mm. (e) In 2010: PR interval 120 ms, LVH criteria (Sokolow-Lyon index) 46 mm. (f) In 2014: PR interval 100 ms, LVH criteria (Sokolow-Lyon index) 50 mm. (g) In 2016: PR interval 100 ms, LVH criteria (Sokolow-Lyon index) 63 mm. (h) In 2017: PR interval 100 ms, LVH criteria (Sokolow-Lyon index) 67 mm.
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An electrocardiogram (ECG) showed regular sinus rhythm with a normal PR interval (160 ms) and no LVH by the Sokolow-Lyon index (28 mm) (Figure 1(a)). LVH (50 mm) by the Sokolow-Lyon index than the previous examinations (Figure 1(f)). Laboratory testing revealed a normal creatine phosphokinase (CPK) level (132 U/L; normal range 60-190 U/L), an elevated creatine kinase- (CK-) MB isoenzyme level of 15.44 ng/mL (normal range 0.1-6.7 ng/mL), and a slightly elevated lactate dehydrogenase (LDH) level of 302 U/L (normal range 140-271 U/L). LVH (63 mm) by the Sokolow-Lyon index (Figure 1(g)). Laboratory testing revealed elevated LVH (67 mm) by the Sokolow-Lyon index (Figure 1(h)). Laboratory testing revealed elevated CK-MB/CPK (38.91 ng/mL; normal range 0.1-6.7 ng/mL/272 U/L; normal range 60-190 U/L), LDH (289 U/L; normal range 140-271 U/L), and pro-BNP level (2853 pg/mL; normal range < 115 pg/mL).
Transthoracic echocardiogram. Echocardiography showed concentric LVH in 2010 (a, b). In 2014, transthoracic echocardiography (TTE) revealed LVH (c) and partially decreased left ventricular (LV) global longitudinal strain rates (d). In 2016, TTE showed LVH (e) and marked decreased LV longitudinal strain rates (f). Eight months after ERT, TTE still showed LVH (g) but a marked improvement of LV longitudinal strain rates (h).
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TTE revealed LVH and partially decreased LV global longitudinal strain rates (Figures 2(c) and 2(d)). In addition, TTE revealed marked decreased LV longitudinal strain rates (Figures 2(e) and 2(f)). TTE still showed LVH but a marked improvement of LV longitudinal strain rates (Figures 2(g) and 2(h)).
Magnetic resonance imaging. Magnetic resonance imaging showed delayed enhancement (arrows) at the basal segment of LV lateral wall. (a) Short axis view. (b) 4-chamber view.
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Magnetic resonance imaging findings showed a delayed enhancement at the basal segment of LV lateral wall and LVH, and thus, FD was suspected (Figures 3(a) and 3(b)).
Cornea. Subepithelial lines show the typical pattern of the so-called "cornea verticillata".
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Ophthalmic examination showed cornea verticillata (Figure 4).
The pedigree of the patient's family.
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The patient's family members also underwent genetic testing, and the patient's two sons were diagnosed with classic FD (Figure 5).