We report a case of cervical aortic arch (CAA) with unusual tortuosity in the mid thoracic descending aorta. The presentation of this case involving a 6-year-old girl with CAA reinforces clinical clues and associations. She was referred for catheterization to evaluate prominent right sided neck pulsations attributed to mild coarctation of the aorta with inability to image a normal aorta on an echocardiogram. At examination, the girl had intermittent arm–leg blood pressure discrepancies (e.g., right arm, 115/76; right leg, 98/67). When sitting, she had hyperdynamic neck pulsations in the right neck and a continuous murmur louder than a typical venous hum. Her small stature, dysmorphic features, and hypernasal speech were not shared by her twin brother. Chest X-ray did not confirm arch laterality or rib notching. Probable abnormal aortic arch development was diagnosed, and suspicion of velocardiofacial syndrome was supported with genetic testing, which confirmed 22q11 deletion. At catheterization, a patent foramen ovale facilitated catheter entry into the left ventricle. After left ventricular injection, the elongated ascending aorta with the right aortic arch and cervical extent plus the characteristic origin of the arch vessels was identified (Figs.1 and 2) [3]. Unique to this case was the ‘‘twist’’ seen in the mid thoracic descending aorta to the right of the spine before the aorta took a retroesophageal course and crossed to descend on the left. There was a mild gradient between the left ventricle (112/0, 10) and femoral artery (100/70; mean, 98). However, no discrete area of obstruction in the course of the aorta was identified. The congenital anomaly of CAA characterized by the cervical extent of the aortic arch with the apex positioned in the neck above the clavicle was first reported in 1914. Approximately 150 cases have been reported to date [1–3]. One proposal is that CAA develops during weeks 4 to 6 of fetal life from abnormal persistence of the third arch with involution of the left fourth arch, which locates the aortic arch to a more cervical position. This explanation also allows for the expected separate origins of the carotid arteries. There is no true innominate artery, and the last vessel off the aorta is the subclavian artery arising from the descending aorta contralateral to the arch. This is the pattern of CAA identified in patients with 22q11.2 deletion [1]. Clinically unifying to the diagnosis of the cervical aortic arch is the recognition of prominent pulsations in the neck and a cardiac murmur. Our patient should be followed for symptoms of vascular ring, aortic arch obstruction, aortic aneurysm, and anticipation of problems related to her confirmed 22q11.2 deletion. The unusual tortuosity of the aorta may be a new finding in the CAA complex.
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