|Year : 2020 | Volume
| Issue : 2 | Page : 190-192
Arteries gone astray: Adult presentation of arterial tortuosity syndrome
Sofia Mohan1, Prajna B Kota1, Amish P George2, Shyamkumar N Keshava3
1 Department of Vascular Surgery, Christian Medical College, Vellore, Tamil Nadu, India
2 Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India
3 Department of Interventional Radiology, Christian Medical College, Vellore, Tamil Nadu, India
|Date of Submission||24-Oct-2019|
|Date of Acceptance||12-Dec-2019|
|Date of Web Publication||17-Jun-2020|
Dr. Prajna B Kota
Department of Vascular Surgery, Christian Medical College, Vellore, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Arterial tortuosity syndrome (ATS) is a rare genetic arteriopathy with tortuosity of large- and medium-sized arteries, transmitted in an autosomal recessive fashion. Over the years, better cross-sectional imaging has heightened the chances of diagnosing this entity. So far, less than hundred cases have been reported in literature. Most of these are seen in infants and children. A 36 year old lady presented to us with a pulsatile swelling in the right supraclavicular region. She was diagnosed to have ATS based on her imaging characteristics. As she had no significant vascular compromise, she was reassured and advised yearly follow-up.
Keywords: Arterial tortuosity syndrome, genetic arteriopathies, adult presentation
|How to cite this article:|
Mohan S, Kota PB, George AP, Keshava SN. Arteries gone astray: Adult presentation of arterial tortuosity syndrome. Indian J Vasc Endovasc Surg 2020;7:190-2
|How to cite this URL:|
Mohan S, Kota PB, George AP, Keshava SN. Arteries gone astray: Adult presentation of arterial tortuosity syndrome. Indian J Vasc Endovasc Surg [serial online] 2020 [cited 2020 Jul 4];7:190-2. Available from: http://www.indjvascsurg.org/text.asp?2020/7/2/190/286914
| Introduction|| |
The presence of exaggerated turns in arteries is described as arterial tortuosity. It usually results due to the three-dimensional expansion of a tubular structure. It has been variously attributed to senescence, female sex, hypertension, and genetic arteriopathies. It was shown to have a significant prognostic value in defining cardiovascular risk in terms of probability of aortic dissection and the need for earlier aortic surgery. Arterial tortuosity syndrome (ATS) is a recessively transmitted arteriopathy due to an abnormal glucose transporter gene. It is associated with tortuosity of large-to-medium-sized arteries throughout the body. Less than 100 cases have been reported in literature, mostly in infants. Here, we report a 36 year old lady who was diagnosed with this rare syndrome.
| Case Report|| |
A 36-year-old lady, who was a known hypertensive for two years, presented with a pulsatile swelling at the base of the neck, on the right side. She did not have similar swellings elsewhere or symptoms suggestive of vascular disease. There was history suggestive of a similar swelling in her mother. On examination, there was a 3-cm swelling in the right supraclavicular region with expansile pulsations. The initial differentials were carotid aneurysm or a highly vascular tumor of the neck. There were no syndromic features such as high-arched palate, marfanoid habitus, skin, or joint laxity.
Her electrocardiogram (ECG) was normal. Her ECHO showed left ventricular hypertrophy and systolic dysfunction with septal hypokinesia. There was no aortic root dilatation.
Her computed tomography angiogram showed a dilated and tortuous brachiocephalic trunk on the right side, corresponding to her clinical presentation [Figure 1]. In addition, there was generalized arterial tortuosity, involving the cervical internal carotid arteries [Figure 2], vertebral arteries, abdominal aorta, and iliac arteries [Figure 3]. There were no aneurysms or stenosis. There were no imaging findings suggesting accelerated atherosclerosis. No obvious causes attributing to her early-onset hypertension such as functional tumors or renal artery stenosis were present. It was incidentally noted that she had multiple tracheal and bronchial diverticula.
|Figure 1: Axial sections showing dilated, tortuous brachiocephalic trunk|
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In view of her age, generalized arterial tortuosity on imaging, and associated hypertension, ATS was considered as the diagnosis. She was reassured and her antihypertensive medication was optimized. She was advised regular yearly follow-up.
| Discussion|| |
Arterial tortuosity has been described in literature as early as 1852 by Coulson, who described a tortuous carotid artery that masqueraded as a tumor in the neck. In 1967, Ertugrul reported a 10-year-old child with generalized tortuosity involving the major arteries of the body, resembling a “telephone cord.” After an extensive investigation into the possible etiology, the condition was attributed to congenital absence of elastin in the arterial wall. This was the first-reported case of ATS.
ATS is a rare connective tissue disorder transmitted in an autosomal recessive fashion. About 100 cases have been reported so far, predominantly in infants and children. Mutations of the SLC2A10 gene have been identified to trigger this pathological tortuosity. SLC2A10 gene encodes glucose transporter, GLUT10. Diminished GLUT10 activity leads to reduced hydroxylation of prolines and lysines causing defective elastin, leading to pathological vascular modeling. Defective elastin debilitates the arterial wall causing elongation and arterial tortuosity.
The clinical presentation of ATS is usually in infancy with a mean presentation at 15 years across various cohorts. The syndrome has been associated with consanguinity. Wessels et al. have concluded that ATS is fatal in 40% of the cases when they present below 5 years of age. Acute respiratory symptoms such as cyanosis and respiratory distress due to pulmonary arterial stenosis or diaphragmatic hernia are the common predisposing factors for early demise. The arterial involvement is generalized involving large-to-medium-sized arteries. Apart from the tortuosity, other characteristic features include micrognathia, joint and skin laxity, valvular regurgitation, and recurrent hernias. Surprisingly, aneurysmal development has been seen in only 3% of the reported cases, and no cases of dissection have been reported so far. Other specific complications that were noted when a patient with ATS survives infancy include systemic hypertension, pulmonary arterial hypertension, aortic root dilatation, conduction defects, and stroke.
Considering its rarity, no structured follow-up protocols are in place. Ritelli et al. in their literature review suggested serial follow-ups with blood pressure measurements, ECG, and echocardiogram. There is still no clarity whether the natural history of the disease would benefit from serial cross-sectional imaging.
In our patient, the diagnosis was made based on her age, characteristic imaging findings, and associated hypertension. Genetic confirmation was not done. Due to the dearth of symptoms and the absence of gross vascular structural abnormalities, she was managed conservatively by treating her hypertension and advised serial follow-up.
| Conclusion|| |
ATS is a rare genetic arteriopathy with tortuosity of large-to-medium arteries. Over the years, better cross-sectional imaging has heightened the chances of diagnosing this extremely rare entity. Future reporting and serial follow-up of cross-sectional imaging would help us in understanding the natural history of the disease and assessing the prognostic benefit of an early diagnosis.
We would like to thank Dr. Sunil Agarwal, Department of Vascular Surgery, Christian Medical College, Vellore, India.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]