Republished: Separate origins of the left internal and external carotid arteries from the aortic arch and cervical internal carotid artery aneurysm in a patient with Noonan syndrome

Abstract

Distinct origins of the external carotid artery and the internal carotid artery (ICA) from the aortic arch have been rarely described, and represent an aberrant development of the aortic arches during fetal life. This anatomical variation is usually discovered incidentally; infrequently, an aneurysm of the cervical ICA might accompany this rare configuration. We describe one such case in a patient with Noonan syndrome who presented with pulsatile neck mass. The diagnostic features and management of the aneurysm and a review of the literature are presented.

MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

“…In addition to progressive HCM, she finally developed pulmonary hypertension, a clinical feature described in several patients with the p.Ser257Leu amino acid substitution in RAF1 [ 24 ] and hydrocephalus, also already reported in association with this variant [ 24 ], in this case likely related to intraventricular hemorrhage of prematurity. Pulmonary artery dilation, consistent with an aneurysm, has been rarely observed in NS, reported only in a single newborn and in an adult patient [ 32 ], whereas cardiac and great arteries aneurysms have been sporadically described as part of the NS phenotype [ 33 , 34 , 35 , 36 , 37 , 38 ]. The pulmonary artery dilation observed in this patient was likely an epiphenomenon of the pulmonary hypertension (PH) and the histological abnormalities observed in the lungs: histology revealed pulmonary capillary hemangiomatosis (PCH), a very rare cause of PH characterized by extensive proliferation of pulmonary capillaries within alveolar septae [ 39 ] never reported in NS.…”

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

“…Arterial aneurysms are also associated with NS. There are several case reports describing aneurysms of coronary and carotid arteries as well as of the aorta (Mauro, Flors, Hoyer, Norton, & Hagspiel, 2016;Tahir et al, 2017). Similarly, CBL pathogenic variants have been associated with the development of moyamoya disease, underlining a potential role in cerebrovascular proliferation (Hyakuna et al, 2015).…”