Cardiovasc Imaging Asia.  2021 Jan;5(1):9-12. 10.22468/cvia.2020.00129.

Arterial Tortuosity Syndrome: A Case Report and Literature Review

• Kumar P

• KMID: 2512416
• DOI: http://doi.org/10.22468/cvia.2020.00129

Abstract

Arterial tortuosity syndrome (ATS) is a rare genetic syndrome characterized by elongation, tortuosity, stenosis, and aneurysm formation of major arteries. A one year ten months old boy presented with a history of repeated chest infections. Cardiovascular examination was normal except for slightly increased heart rate (130 beats per minute). Echocardiography revealed situs solitus, levocardia, D-loop, and atrioventricular and ventricular-arterial concordance. Both right and left pulmonary arteries appeared mildly narrowed in caliber, measuring 7.1 and 9 mm, respectively. CT angiography was advised for detailed evaluation of branch pulmonary arteries. CT showed early branching of the main pulmonary trunk with narrowed caliber branch pulmonary arteries forming an inverted V sign on axial maximum intensity projection images and an V sign on coronal volume rendering technique images. All the three arch branches showed tortuous courses after their origin. The thoraco-abdominal aorta also appeared tortuous in course that extended beyond the normal expected course into adjacent anatomic areas. There was no evidence of any aortic aneurysm or dissection. In view of these typical imaging findings, the diagnosis of ATS was made. This case report highlights the role of radiological imaging to ascertain the diagnosis and detect the complications of ATS.

Keyword

Arterial tortuosity syndrome; Computed tomography.