PMC6666362_01
(a) Three-dimensional CT angiography revealing aneurysmatic dilatation in the ascending aorta and tortuosity in the aorta in the first patient, (*) ascending aorta aneurysm. (b) CT section revealing ascending aorta aneurysm in the first patient. (*) ascending aorta aneurysm
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F1
Figure 1a and b show the ascending aorta aneurysm and diffuse tortuosity in the aorta, and marked widening in the ascending aorta in the sagittal section on 3-dimensional computed tomography (CT).
Pedigree showing excessive consanguineous marriages, black arrow (V-1): Index patient, V-2: patient who was followed up in another external center, V-8: Patient 2, IV-3: Patient 3, IV-4: Patient 4, V-6: Patient 5
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F2
Similar findings were also found in four of 29 family members who could be screened (Figure 2).
PMC6666362_02
Three-dimensional CT angiography revealing aneurysmatic dilatation in the ascending aorta and tortuosity related to the second patient, (*) ascending aorta aneurysm
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F3
CT angiography revealed marked dilatation in the ascending aorta and aortic turtuosity (Figure 3).
PMC6666362_03
Picture belonging to the third patient showing hypertelorism, prominent forehead and eyes, long philtrum and flattened face
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F4
A prominent forehead, long philtrum, hypertelorism, high-arched palate, low-set ears, and joint hypermobility were found on pyhsical examination (Figure 4).
PMC6666362_04
PMC6666362_05
Echocardiographic appearance belonging to the fifth patient showing ascending aorta dilatation
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F5
The diameter of the ascending aorta was measured as 4.5 cm on echocardiography (Figure 5) and 4.8 cm on CT angiography (z score: 12.97).