Arterial tortuosity in genetic arteriopathies

Morris, Shaine A.

doi:10.1097/hco.0000000000000218

Cited by 61 publications

(32 citation statements)

References 33 publications

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“…Tortuosity in the medium and large arteries has been linked to clinical risk by previous authors. Both a failure of the structural integrity of the arterial wall 9,10 and an elongation of the artery that outpaces body cavity growth 6 have been postulated as causes for tortuosity. Most likely the mechanical effects of long and winding arteries impact adversely on the ultimate placement of devices.…”

Section: Discussionmentioning

confidence: 99%

Vertebral Tortuosity Index in Patients with Non-Connective Tissue Disorder-Related Aneurysm Disease

Virgilio

Maurel

Davis

et al. 2017

European Journal of Vascular and Endovascular Surgery

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Sixty-five patients were identified with adequate imaging to assess the entire aorta, including vertebral arteries. The majority of patients were male (71%, 46/65) and mean age at the time of the CT scan was 71 years (SD 11.1 years). There were 11 patients under the age of 60 years in this cohort. The mean VTI was 33.17 (SD 20.43). There was no statistically significant difference between different territories of presentation (proximal vs. distal aneurysm, p=.94), age of patient (>60 years vs. <60 years, p=.2), or size of aneurysm (>6 cm vs. <6 cm, p=.09). Acuity of presentation was not predicted by a higher VTI (p=.69). The VTI in patients with aneurysms was higher than in patients without aneurysm disease (VTI = 16.1, p<.005) CONCLUSIONS: An elevated VTI is consistently present in patients with degenerative aneurysms and has potential as a universally available predictive measurement. However, the increased VTI in the older cohort without connective tissue disease may not carry the same predictive value for acute presentations as has been demonstrated in younger patients with a known genetic basis for their aortopathy.

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Section: Discussionmentioning

confidence: 99%

Vertebral Tortuosity Index in Patients with Non-Connective Tissue Disorder-Related Aneurysm Disease

Virgilio

Maurel

Davis

et al. 2017

European Journal of Vascular and Endovascular Surgery

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“…Beforehand, it is crucial to first establish a standardized method to define and measure the arterial tortuosity. Tortuosity is defined in literature as the property of the artery to have “many turns” [ 7 ]. Multiple definitions exist to quantify arterial tortuosity, but due to its good reproducibility values, it is commonly referred to as the tortuosity index (TI), which is the true length of the vessel divided by the straight distance [ 8 – 11 ].…”

Section: Introductionmentioning

confidence: 99%

Comparability of semiautomatic tortuosity measurements in the carotid artery

et al. 2018

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PurposeIncreased arterial tortuosity has been suggested as a predisposing factor for carotid artery dissection, which is an important risk factor for development of extracranial carotid artery aneurysms (ECAA). Prior to comparison with non-ECAA controls, the optimal measurement technique should be defined. This study describes the difference between software packages in terms of reproducibility and absolute outcome of arterial tortuosity measurements in ECAA patients.MethodsCT-angiography analysis was performed on 12 ECAA patients selected from our registry, using four software packages: 3mensio Vascular, TeraRecon, Vital Images, and Aycan OsiriX PRO. The tortuosity index (TI) was calculated from the skull base until the carotid bifurcation and aortic arch, and was defined as the centerline’s true length divided by the straight line distance. Intraclass correlation coefficients (ICC) with 95% confidence intervals were calculated to quantify inter- and intra-observer variability within one software package, and differences in measured TI between packages.ResultsInter-observer agreement was nearly perfect for 3mensio, excellent for Vital Images and OsiriX, and substantial for TeraRecon, with ICC 0.99 (0.96–1.0), 0.90 (0.69–0.97), 0.84 (0.53–0.95), and 0.72 (0.28–0.91), respectively. Intra-observer agreement ranged from ICC 1.0 for 3mensio to 0.91 for TeraRecon. Agreements in TI ranged from ICC 0.99 (0.98–1.0) for 3mensio vs. OsiriX, to 0.95 (0.82–0.98) for 3mensio vs. TeraRecon. Median time needed to complete one round of measurements was highest for OsiriX (p = 0.013).ConclusionsCarotid artery tortuosity measurements are reproducible and comparable between current commercially available software packages, with high intra-observer agreement. Although the reproducibility differed per software packages, all packages scored an acceptable inter-observer agreement.

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“…These observations can be related to the pathomechanism of ATS. Increased TGF- β activity has also been repeatedly postulated as an important causal factor of genetic arteriopathies [40]. Dysregulation of the PPAR- γ -TGF- β pathway has been reported in fibroblasts from ATS patients [41].…”

Section: Discussionmentioning

confidence: 99%

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

Németh

Nemoda

Lőw

et al. 2019

Oxidative Medicine and Cellular Longevity

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Ascorbate requiring Fe2+/2-oxoglutarate-dependent dioxygenases located in the nucleoplasm have been shown to participate in epigenetic regulation of gene expression via histone and DNA demethylation. Transport of dehydroascorbic acid is impaired in the endomembranes of fibroblasts from arterial tortuosity syndrome (ATS) patients, due to the mutation in the gene coding for glucose transporter GLUT10. We hypothesized that altered nuclear ascorbate concentration might be present in ATS fibroblasts, affecting dioxygenase activity and DNA demethylation. Therefore, our aim was to characterize the subcellular distribution of vitamin C, the global and site-specific changes in 5-methylcytosine and 5-hydroxymethylcytosine levels, and the effect of ascorbate supplementation in control and ATS fibroblast cultures. Diminished nuclear accumulation of ascorbate was found in ATS fibroblasts upon ascorbate or dehydroascorbic acid addition. Analyzing DNA samples of cultured fibroblasts from controls and ATS patients, a lower global 5-hydroxymethylcytosine level was found in ATS fibroblasts, which could not be significantly modified by ascorbate addition. Investigation of the (hydroxy)methylation status of specific regions in six candidate genes related to ascorbate metabolism and function showed that ascorbate addition could stimulate hydroxymethylation and active DNA demethylation at the PPAR-γ gene region in control fibroblasts only. The altered DNA hydroxymethylation patterns in patient cells both at the global level and at specific gene regions accompanied with decreased nuclear accumulation of ascorbate suggests the epigenetic role of vitamin C in the pathomechanism of ATS. The present findings represent the first example for the role of vitamin C transport in epigenetic regulation suggesting that ATS is a compartmentalization disease.

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Arterial tortuosity in genetic arteriopathies

Cited by 61 publications

References 33 publications

Vertebral Tortuosity Index in Patients with Non-Connective Tissue Disorder-Related Aneurysm Disease

Vertebral Tortuosity Index in Patients with Non-Connective Tissue Disorder-Related Aneurysm Disease

Comparability of semiautomatic tortuosity measurements in the carotid artery

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

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