PHACES syndrome, a diffuse aortocraniocerebral vasculopathy, is a neural tube migration disorder, characterized by aortic coarctation and aberrant arch branches. Clinical diagnosis, echocardiography, and surgical management of coarctation in this syndrome are challenging due to peculiar morphological differences. Corkscrew aortic arch, an extreme tortuosity of the aortic arch described in arterial tortuosity syndrome, is not reported in PHACES syndrome so far. Multimodal imaging of this unusual corkscrew aortic arch in two patients with PHACES syndrome is presented.
How to cite this article: Sheth R, Singh AS, Pavithran S, Sivakumar K. Corkscrew aortic arch in PHACES syndrome: Multimodal imaging of an unusual morphology of tortuous aortic arch in a rare but well-defined syndrome. Ann Pediatr Card 2019;12:333-5
How to cite this URL: Sheth R, Singh AS, Pavithran S, Sivakumar K. Corkscrew aortic arch in PHACES syndrome: Multimodal imaging of an unusual morphology of tortuous aortic arch in a rare but well-defined syndrome. Ann Pediatr Card [serial online] 2019 [cited 2022 Aug 11];12:333-5. Available from: https://www.annalspc.com/text.asp?2019/12/3/333/263053
Neural crest migration plays a role in embryogenesis of aortic arch. An early embryonic insult on neural crest-derived structures leads to a vasculopathy named PHACES syndrome, an acronym for Posterior fossa malformations, Hemangiomas, Arterial, Cardiac, Eye, and Sternal abnormalities. Cardiovascular malformations, often aortic coarctation, occur in 40% of patients., The peculiarity of aortic arch abnormality in this syndrome includes tortuosity of the arch vessels, involvement of transverse arch, stenosis or agenesis of branches, and frequent aberrancy of subclavian artery, which makes clinical and echocardiographic diagnosis as well as surgical management very challenging. Corkscrew aorta is a term used to describe extreme tortuosity and often seen in arterial tortuosity syndrome, an entirely different single-gene disease involving SLC2A10 gene in chromosome 20q13 that encodes GLUT10 transporter., Multimodality imaging of corkscrew aorta in two different patients with PHACES syndrome is presented.
A 3-month-old infant born of nonconsanguinous marriage with extensive left frontal facial hemangioma and smaller right frontotemporal hemangiomas was referred for a cardiac evaluation [Figure 1]. Her growth was normal, and there was no history of seizures, respiratory distress, or stridor. There was no cranial bruit. There were no sternal or midline abdominal defects. Magnetic resonance imaging of the brain showed a severely narrowed left internal carotid artery collateralized through the circle of Willis [Figure 2]. There were no intracranial aneurysms or infarcts. Clinical cardiovascular examination, chest radiograph, and electrocardiogram were normal. There was no major intraocular pathology.
Figure 1: A large left frontal cutaneous hemangioma at 3 months of age (a), regressed on follow-up on oral propranolol therapy (b)
Echocardiogram revealed mild concentric left ventricular hypertrophy and a left aortic arch with a marked tortuosity and corkscrew appearance of its distal part [[Figure 3] and Video 1]. The left common carotid artery was not well visualized; the left subclavian artery originated from the tortuous segment that gave a peak and mean Doppler gradient of 35 and 11 mmHg. A computed tomographic aortogram confirmed a tortuous distal aortic arch with coarctation and extremely tortuous coiling right subclavian artery [[Figure 4] and Video 2].
Figure 3: Suprasternal long-axis view of the aortic arch shows marked corkscrew tortuosity of the distal aortic arch with turbulent color Doppler flows
Figure 4: Volume-rendered computed tomographic aortogram viewed from back shows the marked corkscrew tortuosity of the aortic arch and right subclavian artery, marked stenosis of the left carotid artery
A conservative follow-up was suggested in view of preserved femoral pulses and ventricular function. Oral propranolol for the next 10 months facilitated the regression of facial hemangioma [Figure 1]. The growth and development were adequate on follow-up. The aortic arch tortuosity and gradients did not progress, and the ventricular function was preserved.
Aortogram of another historic patient 15 years ago, a young girl with similar facial hemangioma, brisk left arm pulses, and weak pulses in other limbs showed a corkscrew aorta in the right aortic arch associated with severe hypoplasia of the right carotid artery and significant arch gradients [[Figure 5] and Video 3]. Her parents declined surgery after explanations about the complexities in the anatomy and surgical approach.
Figure 5: Aortic arch angiogram of the second patient in anteroposterior (a) and right anterior oblique view (b) shows right aortic arch, tortuous left subclavian branch of the left brachiocephalic artery, very stenotic right carotid artery, and stenotic right subclavian artery. A guidewire in lateral view (c) across the arch shows the corkscrew tortuosity
Neural crest cells migrate to cranium, pharyngeal arches, and heart and lead to the formation of neural, vascular, cardiac, bony, and other structures. PHACES syndrome refers to a spectrum of developmental field defects with a common denominator of a large segmental craniocervical hemangioma., This diffuse aortocraniocerebral vasculopathy results from abnormal neural crest cell migration and peculiarly common in females.,
A “corkscrew aortic arch” refers to extreme tortuosity occasionally encountered in arterial tortuosity syndrome, but not previously reported in PHACES syndrome., The aortic arch anomalies, namely long-segment transverse arch involvement, tortuosity of vessels, aberrancy of subclavian origin in 60% of patients, and stenosis of arch branches, offer unique challenges in diagnosis and management and increase threshold for surgical interventions. The disease severity is underestimated both clinically and on echocardiography. Unlike usual coarctation, bicuspid aortic valve, left heart hypoplasia, and mitral valve anomalies are not seen in PHACES. Surgical techniques are individualized based on arch morphology, especially when there is corkscrew aorta. In patients with right-sided descending thoracic aorta as noted in both our patients, a descending aortic translocation surgery with or without aberrant subclavian reimplantation is adopted as it avoids prosthetic material. Surveillance is crucial as the natural history of PHACES syndrome is less known, though they do better than arterial tortuosity syndrome. In spite of an international registry and broad consensus guidelines, these patients present unique challenges.
Declaration of patient consent
Complete informed appropriate written consent has been obtained from the patient's parents including consent for reporting of patient images and clinical information to be published in the journal. The consent has been granted by them understanding fully that names/initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guranteed.
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