PMC10076737_01
Physical appearance of the patient at the ages of (A) 1 month and (B) 5 months.
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F1
An 8-month-old girl was admitted to the pediatric department of our hospital after first presenting at the age of 3 months with abnormal facial features that had been noticed within 4 weeks of birth (Figure 1A). At the age of 5 months, the physical examination findings were similar to the findings at 3 months (Figure 1B).
Echocardiographic findings. Echocardiography performed at the age of 3 months shows (A) a normal ventricular wall thickness but (B) slightly accelerated blood flow in the right ventricular outflow tract. Echocardiography performed at 5 months of age shows (C) significant myocardial hypertrophy and (D) an obstructive pattern in the left ventricular outflow tract.
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F2
Echocardiography showed normal ventricular wall thicknesses (Figure 2A). (interventricular septum (IVS) measured as 4.5 mm, Z score +1.62; left ventricular posterior wall (LVPW) measured as 4 mm, Z score +0.24) and slightly accelerated blood flow in the right ventricular outflow tract (Figure 2B). Standard conventional echocardiography performed at the age of 5 months showed myocardial hypertrophy (Figure 2C). (IVS measured as 13 mm, Z score +23.21; LVPW measured as 8.5 mm, Z score +9.1) and an obstructive pattern in the left ventricular outflow tract (Figure 2D) but a normal ejection fraction of 70%.
Strain parameters on two-dimensional speckle-tracking of the global longitudinal strain at the ages of (A) 5 months, (B) 8 months, and (C) 14 months.
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F3
Two-dimensional speckle-tracking (2D-STE) was performed to assess strain parameters in the left ventricle and revealed a global longitudinal strain of -16.79% (Figure 3A), a global radial strain of 65.67%, and a global circumferential strain of -14.04%. At the age of 8 months, 2D-STE showed a decrease in several left ventricular strain parameters (global longitudinal strain, -13.50% (Figure 3B); global radial strain, 37.63%; and global circumferential strain, -14.76%) compared with the values recorded at the age of 5 months despite the findings on conventional echocardiography showing no significant change (IVS measured as 13.5 mm, Z score +23.34; LVPW measured as 8.5 mm, Z score +9.7). Conventional echocardiography showed no significant changes (IVS measured as 13 mm, Z score +20.55; LVPW measured as 8.5 mm, Z score +7.75) from the findings at the age of 8 months, and the left ventricular strain parameters measured by 2D-STE tended to remain stable (global longitudinal strain, -13.38% (Figure 3C); global radial strain, 34.60%; global circumferential strain, -14.41%).
Electrocardiography reveals a prolonged QTc interval.
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F4
An electrocardiogram revealed sinus rhythm and a prolonged QTc interval (Figure 4).