case_images: PMC6666362_01
case_images: (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
case_images: TPA-54-119-g001.jpg
case_images: PMC6666362_01_TPA-54-119-g001.jpg
case_images: F1
case_images: 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).
case_images: 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
case_images: TPA-54-119-g002.jpg
case_images: PMC6666362_01_TPA-54-119-g002.jpg
case_images: F2
case_images: Similar findings were also found in four of 29 family members who could be screened (Figure 2).
case_images: PMC6666362_02
case_images: Three-dimensional CT angiography revealing aneurysmatic dilatation in the ascending aorta and tortuosity related to the second patient, (*) ascending aorta aneurysm
case_images: TPA-54-119-g003.jpg
case_images: PMC6666362_02_TPA-54-119-g003.jpg
case_images: F3
case_images: CT angiography revealed marked dilatation in the ascending aorta and aortic turtuosity (Figure 3).
case_images: PMC6666362_03
case_images: Picture belonging to the third patient showing hypertelorism, prominent forehead and eyes, long philtrum and flattened face
case_images: TPA-54-119-g004.jpg
case_images: PMC6666362_03_TPA-54-119-g004.jpg
case_images: F4
case_images: A prominent forehead, long philtrum, hypertelorism, high-arched palate, low-set ears, and joint hypermobility were found on pyhsical examination (Figure 4).
case_images: PMC6666362_04
case_images: PMC6666362_05
case_images: Echocardiographic appearance belonging to the fifth patient showing ascending aorta dilatation
case_images: TPA-54-119-g005.jpg
case_images: PMC6666362_05_TPA-54-119-g005.jpg
case_images: F5
case_images: 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).