Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.

BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events. CASE PRESENTATION: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg. CONCLUSION: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.

Association between cervicocerebral artery dissection and tortuosity - a review on quantitative and qualitative assessment.

Cervicocerebral artery dissection stands out as a significant contributor to ischemic stroke in young adults. Several studies have shown that arterial tortuosity is associated with dissection. We searched Pubmed and Embase to identify studies on the association between arterial tortuosity and cervicocerebral artery dissection, and to perform a review on the epidemiology of cervicocerebral artery tortuosity and dissection, pathophysiology, measurement of vessels tortuosity, strength of association between tortuosity and dissection, clinical manifestation and management strategies. The prevalence of tortuosity in dissected cervical arteries was reported to be around 22%-65% while it is only around 8%-22% in non-dissected arteries. In tortuous cervical arteries elastin and tunica media degradation, increased wall stiffness, changes in hemodynamics as well as arterial wall inflammation might be associated with dissection. Arterial tortuosity index and vertebrobasilar artery deviation is used to measure the level of vessel tortuosity. Studies have shown an independent association between these two measurements and cervicocerebral artery dissection. Different anatomical variants of tortuosity such as loops, coils and kinks may have a different level of association with cervicocerebral artery dissection. Symptomatic patients with extracranial cervical artery dissection are often treated with anticoagulant or antiplatelet agents, while patients with intracranial arterial dissection were often treated with antiplatelets only due to concerns of developing subarachnoid hemorrhage. Patients with recurrent ischemia, compromised cerebral blood flow or contraindications for antithrombotic agents are usually treated with open surgery or endovascular technique. Those with subarachnoid hemorrhage and intracranial artery dissection are often managed with surgical intervention due to high risk of re-hemorrhage.

Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension.

BACKGROUND: Increased arterial tortuosity has been associated with various cardiovascular complications. However, the extent and role of arterial tortuosity in non-atherosclerotic vascular diseases remain to be fully elucidated. This study aimed to assess arterial tortuosity index (ATI) in patients with non-atherosclerotic vascular diseases and the associated factors. METHODS: This is a retrospective analysis of patients with non-atherosclerotic vascular diseases referred to the Malformation and Rare Vascular Disease Center at the University Hospital in Lausanne (Switzerland). Computed tomography angiography (CTA) images performed between October 2010 and April 2022 were retrieved and the aortic tortuosity index (ATI) was calculated. Patients were classified based on diagnosis into the following groups: arterial dissection & aneurysm, arteritis & autoimmune disease, hereditary connective tissue diseases, and fibromuscular dysplasia (FMD). Univariate and multivariate logistic regression analysis was used to determine potentially relevant predictors of aortic tortuosity. RESULTS: The mean age upon computed tomography angiography (CTA) was 46.8 (standard deviation [SD] 14.6) years and 59.1% of the patients were female. Mean ATI was higher in patients over 60 years old (1.27), in those with arterial aneurysms (mean: 1.11), and in those diagnosed with hypertension (mean: 1.13). When only patients over 60 years old were considered, those diagnosed with connective tissue diseases had the highest ATI. At multivariate regression analysis, increasing age (p < 0.05), presence of arterial aneurysms (p < 0.05), and hypertension (p < 0.05) were independently associated with ATI. CONCLUSIONS: The ATI may be a promising tool in diagnostic evaluation, cardiovascular risk stratification, medical or surgical management, and prognostic assessment in several non-atherosclerotic vascular conditions. Further studies with longitudinal design and larger cohorts are needed to validate the role of ATI in the full spectrum of vascular diseases.

Neurological abnormalities in individuals with Marfan syndrome: results from a genetically confirmed Italian cohort.

BACKGROUND AND AIMS: Neurological abnormalities have been frequently reported in individuals with Marfan Syndrome (MFS). However, available data relies solely on retrospective studies predating current diagnostic criteria. METHODS: Cross-sectional study comprehensively investigating neurological abnormalities within a prospective cohort of adults (≥ 18 years) with genetically confirmed MFS referred to an Italian hub center for heritable connective tissue diseases (Jan. 1st - Nov. 15th, 2021). RESULTS: We included a total of 38 individuals (53% female). The commonest neurological symptom was migraine (58%), usually without aura (73%). Neuropsychological testing was generally unremarkable, whilst anxiety and depression were highly prevalent within our cohort (42% and 34%, respectively). The most frequent brain parenchymal abnormality was the presence of cortico-subcortical hypointense spots on brain MRI T2* Gradient-Echo sequences (39%), which were found only in patients with a prior history of aortic surgery. Migraineurs had a higher frequency of brain vessels tortuosity vs. individuals without migraine (73% vs. 31%; p = 0.027) and showed higher average and maximum tortuosity indexes in both anterior and posterior circulation brain vessels (all p < 0.05). At univariate regression analysis, the presence of brain vessels tortuosity was significantly associated with a higher risk of migraine (OR 5.87, CI 95% 1.42-24.11; p = 0.014). CONCLUSIONS: Our study confirms that neurological abnormalities are frequent in individuals with MFS. While migraine appears to be associated with brain vessels tortuosity, brain parenchymal abnormalities are typical of individuals with a prior history of aortic surgery. Larger prospective studies are needed to understand the relationship between parenchymal abnormalities and long-term cognitive outcomes.

Validating a Curvature-Based Marker of Cervical Carotid Tortuosity for Risk Assessment in Heritable Aortopathies.

BACKGROUND: Cervical arterial tortuosity is associated with adverse outcomes in Loeys-Dietz syndrome and other heritable aortopathies. METHODS AND RESULTS: A method to assess tortuosity based on curvature of the vessel centerline in 3-dimensional space was developed. We measured cervical carotid tortuosity in 65 patients with Loeys-Dietz syndrome from baseline computed tomography angiogram/magnetic resonance angiogram and all serial images during follow-up. Relations between baseline carotid tortuosity, age, aortic root diameter, and its change over time were compared. Patients with unoperated aortic roots were assessed for clinical end point (type A aortic dissection or aortic root surgery during 4 years of follow-up). Logistic regression was performed to assess the likelihood of clinical end point according to baseline carotid tortuosity. Total absolute curvature at baseline was 11.13±5.76 and was relatively unchanged at 8 to 10 years (fold change: 0.026±0.298, P=1.00), whereas tortuosity index at baseline was 0.262±0.131, with greater variability at 8 to 10 years (fold change: 0.302±0.656, P=0.818). Baseline total absolute curvature correlated with aortic root diameter (r=0.456, P=0.004) and was independently associated with aortic events during the 4-year follow-up (adjusted odds ratio [OR], 2.64 [95% CI, 1.02-6.85]). Baseline tortuosity index correlated with age (r=0.532, P<0.001) and was not associated with events (adjusted OR, 1.88 [95% CI, 0.79-4.51]). Finally, baseline total absolute curvature had good discrimination of 4-year outcomes (area under the curve=0.724, P=0.014), which may be prognostic or predictive. CONCLUSIONS: Here we introduce cervical carotid tortuosity as a promising quantitative biomarker with validated, standardized characteristics. Specifically, we recommend the adoption of a curvature-based measure, total absolute curvature, for early detection or monitoring of disease progression in Loeys-Dietz syndrome.

[Dynamic functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Dinamicheskaya funktsional'naya otsenka patologicheskikh izvitostei vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom. Klinicheskii sluchai.

A personalized approach with attention to anamnesis and specific symptoms is necessary in patients with internal carotid artery tortuosity. Neuroimaging (especially before elective surgery) or functional stress tests following ultrasound of supra-aortic vessels may be necessary depending on medical history and complaints. In addition to standard Doppler ultrasound, these patients should undergo rotational and orthostatic transformation tests. We analyze changes in shape and hemodynamic parameters within the tortuosity area in various body positions. This is especially valuable for patients with concomitant carotid artery stenosis. The article presents a clinical case illustrating the importance of such approach.

Transcarotid vascular access for transcatheter aortic valve implantation: is choosing the left side always right?

BACKGROUND: The transcarotid (TC) vascular access for transcatheter aortic valve implantation (TAVI) has emerged as the first-choice alternative to the transfemoral access, in patients unsuitable for the latter. The use of both the left and right common carotid arteries (CCAs) for TC-TAVI has been described, but the optimal side is subject to debate. We conducted this pilot study to compare the level of vessel tortuosity and plaque burden from either the left CCA to the aortic annulus, or the right CCA to the aortic annulus, considering them as surrogates for technical and procedural complexity. METHODS: Consecutive patients who underwent TC-TAVI between 2018 and 2021 in our institution were included. Using three-dimensional reconstruction, pre-TAVI neck and chest computed tomography angiography exams were reviewed to assess the tortuosity index (TI), sum of angles metric, as well as plaque burden, between each CCA and the aortic annulus. RESULTS: We included 46 patients who underwent TC-TAVI. No significant difference regarding the mean TIs between the left and right sides (respectively 1.20 and 1.19, p = 0.82), the mean sum of angles (left side: 396°, right side: 384°, p = 0.27), and arterial plaque burden (arterial plaque found in 30% of left CCAs and 45% of right CCAs, p = 0.19) was found. CONCLUSIONS: We found no convincing data favoring the use of one particular access side over the other one. The choice of the CCA side in TC-TAVI should to be made on a case-by-case basis, in a multidisciplinary fashion, and may also depend on the operators' experience.

Giant aortic aneurysm repair in a child due to arterial tortuosity syndrome.

Arterial tortuosity syndrome is an extremely rare hereditary connective tissue disorder. We present a case of an incidentally diagnosed aneurysm of the aortic root and the ascending aorta caused by arterial tortuosity syndrome, which was confirmed genetically. The aneurysm was repaired surgically. One year after the procedure, there was no further dilation of the aorta or formation of new aneurysms.

Tracheal Deviation and Airway Management: Clinical Considerations From a Cadaver.

Severe tracheal deviation detected on preoperative chest radiographs is one of the risk factors for difficult tracheal intubation and difficulty in ventilation using an endotracheal tube after tracheal intubation when managing the airway through tracheal intubation under general anesthesia. In this report, we describe the cadaver of an 81-year-old woman with marked tracheal deviation due to meandering multiple aortas. This report details the importance of anatomical knowledge in developing a detailed airway management plan. The deviated trachea was removed from the cadaver and the tracheal tube was inserted at the glottis to the proximal end of the glottal marker. The tube tip was in contact with the tracheal wall, suggesting ventilation difficulty during intubation. The tortuous brachiocephalic artery passed in front of the trachea, which posed a risk of massive aortic hemorrhage and postoperative trachea-brachiocephalic artery fistula during percutaneous tracheostomy for emergency airway management. The anatomical location of the trachea and carotid artery must be confirmed before surgery/anesthesia to ensure safe airway management.

Aneurisma de arteria carótida interna. Caso clínico

Introducción: Los aneurismas de la arteria carótida extracraneal (ACEC) son poco frecuentes en comparación con las lesiones oclusivas. Los ACEC son menos del 1% de todos los aneurismas arteriales y solo el 10% son considerados aneurismas verdaderos. Caso Clínico: Paciente femenina de 84 años, en excelentes condiciones generales, hipertensa e hiperlipidémica, neurológicamente asintomática, con hallazgo de aneurisma de carótida interna derecha en el contexto de una arteria elongada, estenosis moderada ostial y oclusión de arteria carótida interna contralateral. Se realiza resección de aneurisma con anastomosis término terminal, endarterectomía del ostium y angioplastía con parche. Su evolución fue favorable, manteniéndose asintomática y con la reconstrucción permeable a 6 meses de seguimiento en eco duplex. Discusión: La elección del manejo del ACEC va a depender de sus características morfológicas, en este caso la presencia de tortuosidad extrema de la arteria carótida interna dificultaba la posibilidad de manejo endovascular, pero facilitaba la resección del aneurisma con anastomosis primaria término terminal. Conclusión: La aneurismectomía y reconstrucción es una modalidad de manejo disponible para los ACEC.

Introduction: Extracranial carotid artery aneurysms (ECAA) are rare compared to occlusive disease, less than 1% of all arterial aneurysms and only 10% are considered true aneurysms. Clinical case: A 84-year-old female, active and in excellent general health, with a prior history significant only for hypertension and hyperlipidemia was referred for a right internal carotid artery aneurysm and elongation in the context of contralateral internal carotid artery occlusion. The patient denied neurologic symptoms. Resection of the aneurysm and end-to-end anastomosis, endarterectomy of the ostium and patch angioplasty was performed. The patient had an uneventful recovery, remaining asymptomatic and the reconstruction patent on duplex scan at 6 month follow up. Discussion: The choice of repair alternatives for EICA depend on its morphological characteristics. The presence of extreme tortuosity of the internal carotid artery in this case, on one hand make difficult to consider endovascular alternatives, but facilitates aneurysm resection and primary end-to-end anastomosis. Conclusion: Aneurysmectomy and arterial reconstruction is a treatment alternative for EICA repair.

Coronary Artery Tortuosity and Spontaneous Coronary Artery Dissection: Association With Echocardiography and Global Longitudinal Strain, Fibromuscular Dysplasia, and Outcomes.

BACKGROUND: The etiology and significance of coronary artery tortuosity (TCA) among patients with spontaneous coronary artery dissection (SCAD) are unknown. The aim of this prospective imaging cohort study was to report echocardiographic findings and evaluate whether TCA correlates with cardiac anatomy and function among patients with SCAD. Comorbidities including fibromuscular dysplasia (FMD) and outcomes were also assessed. METHODS: TCA was determined on coronary angiography performed during the diagnosis of SCAD, and cardiac structure and function were evaluated using prospective comprehensive echocardiography. RESULTS: Among 116 patients with SCAD, the mean age at echocardiography was 50.8 ± 8.8 years, a median of 10.9 months after SCAD. Sixty-two patients (53.4%) had FMD, 41 (35.3%) had histories of hypertension, and 17 (14.8%) were hypertensive during echocardiography. Most patients (n = 78 [69%]) had normal left ventricular geometry with normal median ejection fraction (61%; interquartile range, 56% to 64%) and normal global longitudinal strain (-22.2%; interquartile range, -24.0% to -19.9%). Fifteen patients (13.4%) had diastolic dysfunction that was associated with hypertension at the time of echocardiography. Patients with TCA (n = 96 [82.8%]) were older (mean age, 52.1 ± 8.0 vs 44.7 ± 9.9 years; P < .001) with a higher prevalence of FMD (59.4% vs 25%, P = .007) but a similar prevalence of hypertension (35% vs 35%, P > .99) compared with patients without TCA. Across the age range (31.5 to 66.9 years), each decade of age was associated with an approximately 0.89-unit increase in coronary tortuosity score (P < .0001). Echocardiographic parameters were not significantly different between the two groups. Median follow-up duration was 4.4 years (95% CI, 3.8 to 5.2 years). The Kaplan-Meier 3-year SCAD recurrence rate was 9.4% (95% CI, 3.7% to 14.8%). There were no deaths. CONCLUSIONS: The majority of patients with SCAD had normal or near normal echocardiographic results, including global longitudinal strain, with no differences according to TCA. However, patients with SCAD with TCA were older, with a higher prevalence of FMD.

Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report.

OBJECTIVE: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. CASE REPORT: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. CONCLUSION: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms.

Relationship between the Tortuosity of the Extracranial Internal Carotid and Vertebral Arteries on Magnetic Resonance Imaging/Angiography and Vascular Risk Factors in a Japanese Population.

Objective We aimed to investigate the relationship between tortuosity of the extracranial internal carotid artery (ICA) or vertebral artery (VA) and vascular risk factors among residents of Asahikawa, northeast Japan. Methods We retrospectively surveyed participants of "brain dock" medical brain checkups, which involved magnetic resonance imaging and angiography. We measured the tortuosity of the ICA and VA, and evaluated vascular risk factors based on medical interviews, questionnaires, and medical records. Results A total of 218 participants were enrolled in the study. ICA tortuosity (right and left) was significantly correlated with age [odds ratio (OR): 2.452, 95% confidence interval (CI): 1.695-3.548, p<0.001]. A more pronounced correlation was observed in females than in males (OR: 1.678, 95% CI: 1.004-2.807, p=0.048). VA tortuosity (right and left) was significantly correlated with age (OR: 1.786, 95% CI: 1.250-2.550, p=0.001) and smoking history (OR: 2.140, 95% CI: 1.235-3.707, p=0.007), and was more pronounced in females than in males (OR: 1.864, 95% CI: 1.107-3.137, p=0.019). Conclusion ICA tortuosity was correlated with age, while VA tortuosity was correlated with age and smoking history. ICA and VA tortuosity were more pronounced in females than in males.

Relationship between low relative muscle mass and aortic regional morphological changes in adults underwent contrast CT scans for cancer diagnostics.

OBJECTIVES: Low muscle mass is related to cardiovascular risk factors. This study aimed to investigate whether relative low muscle mass is related to the diameter and tortuosity of the aorta. METHODS: We performed a cross-sectional study of 208 adults without known cardiovascular disease who underwent Computed Tomography (CT) enhanced scan between 2020 and 2021. Skeletal muscle index (SMI) was estimated. The morphology of the aorta was measured by diameter and tortuosity using CT. We assessed the relationship between SMI and diameter and tortuosity of the aorta using Spearman correlation analysis and univariate and multivariate-adjusted regression models. RESULTS: Of all -individuals, 124 (59.6%) were male. The average age was 60.13 ± 16.33 years old. SMI was inversely associated with the diameter and tortuosity of the aorta (p < 0.05). Specifically, in a multivariable-adjusted model adjusting for potential confounders, a one-unit increase in the SMI was associated with a -13.56mm(95% confidence intervals (CI): -18.16 to -8.96, p < 0.001), -7.93 mm (95% CI: -10.85 to -5.02, p < 0.001), -8.01 mm (95% CI: -11.30 to -4.73, p < 0.001), -5.16 mm (95% CI: -7.57 to -2.75, p < 0.001) and -2.73 mm (95% CI: -5.18 to -0.27, p = 0.031) increase in L1-L5 diameter respectively, a -0.89 (95% CI: -1.14 to -0.64, p < 0.001) increase in the aorta tortuosity, a -0.48 (95% CI: -0.59 to -0.36, p < 0.001) increase in the descending thoracic aorta tortuosity, and a -0.44 (95% CI: -0.52 to -0.35, p < 0.001) increase in the abdominal aorta tortuosity. CONCLUSIONS: Relative muscle mass was negatively associated with the diameter and tortuosity of the aorta, suggesting muscle mass maintenance may play a role in preventing aortic morphological changes.

Coral reef aorta: a rare form of obstruction of the ascending aorta in adolescent with aortopathy- case report.

BACKGROUND: Supra aortic obstruction in children is uncommon and is seen in certain unique conditions. While intraluminal obstruction due to heavy calcification is seen in older populations, it is not described in pediatric populations. The coral reef aorta is a rare and distinct calcifying disease causing luminal obstruction of the suprarenal aorta in adults. The definition of this diagnosis relies entirely on the unique aspects and consistency of the lesions, which are rock-hard, irregular, gritty plaques with a white luminal surface resembling a coral reef. However, no such case has been described in children. CASE PRESENTATION: We present an adolescent boy who presented with a heavily calcified ascending aortic lesion associated with aortopathy and hypertension, 12 years after an aortic coarctation repair. The investigations included echocardiography, magnetic resonance and computer-tomographic imaging. A 3-D model was printed in order to visualize and plan surgical steps in advance for safe placement of clamps and defining the extent of resection. In addition, it provided an idea about tissue quality, thickness, spatial relationship, and orientation in relation to surrounding structures. Successful resection and replacement of the diseased segment of the aorta were achieved on cardiopulmonary bypass support. Post-operative recovery was uneventful, and at 6-month follow-up, the patient is doing well. In this report, various aspects of such lesions have been discussed, including clinical presentations, complications, planning and conduct of a safe cardiopulmonary bypass, and precautions during surgery for a successful outcome. CONCLUSION: Complicated obstructive aortic lesions in children require careful assessment, appropriate advanced imaging, and the use of 3-D printing technology in order to plan and perform safe and effective surgical management. The etiology of severe calcified aorta in children may be related to metabolic factors, previous surgery, use of a homograft, or an inflammatory process. However, it has yet to be proven.

[Efficacy and safety of surgical treatment of patients with pathological tortuosity of the internal carotid artery]. / Effektivnost' i bezopasnost' khirurgicheskogo lecheniya bol'nykh s patologicheskoi izvitost'yu vnutrennei sonnoi arterii.

No multicenter randomized clinical trial has been conducted worldwide to date on indications, types of surgery and their comparison with conservative treatment in patients with PI BSA. OBJECTIVE: Of the study is to improve the results of surgical treatment in patients with pathological tortuosity of the internal carotid artery. MATERIAL AND METHODS: The study included 119 patients (41 (34%) men and 78 (66%) women) with PI ICA aged 34 to 71 years (average age 53.2±7.5 years) divided into 2 groups. 64 patients (54%) of group I underwent BSA resection with lower mouth and 55 patients (46%) of group II underwent BSA prosthetics. Depending on the degree of neurological disorders, patients were distributed according to the classification of A.V. Pokrovsky. RESULTS: In the early postoperative period, TIA was noted in one patient, and transient lesions of the cranial nerves were observed in 5 patients. During 5 years of follow-up, none of the patients developed TIA, IS or other vascular events. In the early surgical period, there were no significant differences in effectiveness between the groups of patients. In the long-term period (5 years after surgery), a higher frequency of asymptomatic patients was noted in group I. CONCLUSION: Resection and replacement of a pathologically tortuous internal carotid artery (ICA) is a safe and effective surgical treatment. A multicenter randomized trial should be conducted to compare the effectiveness of surgical treatment of PI ICA with a conservative approach to effectively treat patients.

Arterial tortuosity in pediatric Loeys-Dietz syndrome patients.

Loeys-Dietz syndrome (LDS) is an autosomal connective tissue disorder commonly presenting with hypertelorism, bifid uvula, aortic aneurysms, and arterial tortuosity. The aim of the present study was to investigate differences in tortuosity index (TI) between genotypes of LDS, possible progression over time and its use as an adjunctive prognostic tool alongside aortic dimensions to aid timely surgical planning in pediatric patients. A retrospective observational study of pediatric LDS patients referred to our center (November 2012-February 2021) was conducted. Using magnetic resonance angiography (MRA) with 3D maximum intensity projection volume-rendered angiogram, arterial TI was measured. Twenty three patients had genetically confirmed LDS with at least one head and neck MRA and 19 had no less than one follow-up MRA available. All patients presented arterial tortuosity. Patients with TGFBR2 variants had greater values of TI compared to patients with TGFB2 variants (p = 0.041). For patients who did not undergo surgery (n = 18), z-scores at the level of the sinus of Valsalva showed a significant correlation with vertebral TI (rs = 0.547). There was one death during follow-up. This study demonstrates that patients with LDS and TGFBR2 variants have greater values of TI than patients with TGFB2 variants and that greatest values of TI are associated with increased aortic root z-scores. Furthermore, as TI decreases over time, less frequent neuroimaging follow-up can be considered. Nevertheless, additional studies are needed to better define more accurate risk stratification and long-term surveillance in these patients.

Iliac tortuosity increases reinterventions but not adverse outcomes following repair of juxtarenal aneurysms using physician-modified endografts.

OBJECTIVE: Increased angulation of the proximal aortic neck has been associated with complications following endovascular repair of infrarenal aortic aneurysms, including increased incidence of endoleaks, stent migration, secondary interventions, and conversions. However, knowledge on the impact of aortoiliac tortuosity on outcomes following fenestrated repair remains limited. This study aims to quantify the effect of aortoiliac tortuosity on outcomes following fenestrated repair. METHODS: A single-center, retrospective review of all patients who underwent a physician-modified endovascular repair for the treatment of juxtarenal aortic aneurysms under a single physician-sponsored investigation device exemption study from 2011 to 2021 was performed. Center luminal lines and geometric distances were obtained using TeraRecon software (San Mateo, CA). A tortuosity index was calculated (tortuosity index = centerline distance/geometric line distance) for each iliac vessel as well as for the infrarenal aorta according to Society for Vascular Surgery reporting standards. Aortic and iliac tortuosity were assessed independently and stratified as low and high. Demographics, comorbidities, anatomic and operative details, and outcomes were compared using univariable and multivariable analysis. RESULTS: A total of 135 patients were identified. Thirty-eight patients (28%) had high aortic tortuosity, and 55 patients (42%) had high iliac tortuosity. Patients with high tortuosity were older (aortic: 78 vs 76 years; P = .04; iliac: 78 vs 75 years; P = .01) and differed by sex. Twenty-two percent of men and 50% of women had high aortic tortuosity (P = .01). Forty-seven percent of men and 20% of women had high iliac tortuosity (P = .01). There were no differences in comorbidities based on aortic tortuosity, but coronary artery disease (high: 58% vs low: 36%; P = .01) and hypertension (high: 69% vs low: 86%; P = .02) differed based on iliac tortuosity. Aneurysm diameter was larger for patients with high iliac tortuosity (72 mm vs 64 mm; P < .01), and fluoroscopy time was longer for patients with high aortic tortuosity (41 vs 31 minutes; P = .02). When outcomes were assessed, high iliac tortuosity was associated with increased rate of reinterventions (hazard ratio, 2.6; 95% confidence interval, 1.2-6.0) and type 1 or 3 endoleak (hazard ratio, 5.2; 95% confidence interval, 1.7-16); however, all other outcomes were similar. CONCLUSIONS: Among patients treated with physician-modified endovascular repair for juxtarenal aneurysms, iliac tortuosity but not aortic tortuosity, is associated with increased reinterventions and type 1 or type 3 endoleaks. Long-term follow-up is critical for patients with high iliac tortuosity to ensure that high-risk endoleaks are identified and treated early to avoid the risk of rupture.

Role of mammalian target of rapamycin in the formation and progression of retinopathy of prematurity-like vascular abnormalities in neonatal rats.

Retinopathy of prematurity (ROP), a retinal disease that can occur in premature infants, can lead to severe visual impairment. In this study, we examined the preventive and therapeutic effects of mammalian target of rapamycin complex 1 (mTORC1) inhibition on abnormal retinal blood vessels in a rat model of ROP. To induce ROP-like vascular abnormalities, rats were subcutaneously treated with KRN633, an inhibitor of vascular endothelial growth factor (VEGF) receptor tyrosine kinase, on postnatal day 7 (P7) and P8. KRN633-treated (ROP) rats were treated subcutaneously with the mTORC1 inhibitor rapamycin according to preventive and therapeutic protocols, i.e., from P11 to P13 (P11-P13) and from P14 to P20 (P14-P20), respectively. To compare with the effects of VEGF inhibition, KRN633 was administered according to similar protocols. Changes in retinal vasculature, phosphorylated ribosomal protein S6 (pS6), a downstream indicator of mTORC1 activity, and the proliferative status of vascular cells were evaluated at P14 and P21 using immunohistochemistry. Rapamycin treatment from P11 to P13 prevented increases in arteriolar tortuosity, capillary density, and the number of proliferating vascular cells, and eliminated pS6 immunoreactivity in ROP rats. KRN633 treatment at P11 and P12 (P11/P12) also prevented the appearance of ROP-like retinal blood vessels. Rapamycin treatment from P14 to P20 failed to attenuate arteriolar tortuosity but prevented increases in capillary density and proliferating vascular cell number at the vascular front, but not at the central zone. KRN633 treatment from P14 to P20 significantly reduced abnormalities in the retinal vasculature; however, the effects were inferior to those of KRN633 treatment on P11/P12. These results suggest that activation of the mTORC1 pathway in proliferating endothelial cells contributes to the appearance and progression of ROP-like retinal blood vessels. Therefore, inhibition of mTORC1 may be a promising approach for selectively targeting abnormal retinal blood vessels in ROP.

Significant unfavorable geometrical changes in ascending aorta despite stable diameter at follow-up.

OBJECTIVE: The clinical importance of following up on the ascending aortic diameter lies in the fundamental presumption that wall pathology eventually manifests as a change in shape. However, the diameter describes the vessel locally, and the 55 mm criterion fails to prevent most dissections. We hypothesized that geometric changes across the ascending aorta are not necessarily imprinted on its diameter; i.e. the maximum diameter correlates weakly and insignificantly with elongation, surface stretching, engorgement, and tortuosity. METHODS: Two databases were interrogated for patients who had undergone at least 2 ECG-gated CT scans. The absence of motion artifacts permitted the generation of exact copies of the ascending aorta which then underwent three-dimensional analysis producing objective and accurate measurements of the centreline length, surface, volume, and tortuosity. The correlations of these global variables with the diameter were explored. RESULTS: Twenty-two patients, 13 male and 9 female, were included. The mean age at the first and last scan was 63.7 and 67.1 y, respectively. The mean diameter increase was approximately 1 mm/y. There were no dissections, while 7 patients underwent preemptive surgery. The yearly change rate of the global variables, normalized to height if applicable, showed statistically insignificant, weak, or negligible correlation with diameter increments at follow-up. Most characteristically, a patient's aorta maintained its diameter, while undergoing 1 mm/y elongation, 151 mm2/(y·m) stretching, 2366 mm3/(y·m) engorgement, and 0.02/y tortuosity. CONCLUSION: Maximum diameter provides a local description of the ascending aorta and cannot fully portray the pathological process across this vessel. Following up the diameter is not suggestive of length, surface, volume, and tortuosity changes.