Artery Stenosis In Children Research Articles

Abstract WP226: Perioperative Stroke and Cardiac Anomalies Associated With Posterior Cerebral Artery Stenosis in Children With Moyamoya

Introduction: Moyamoya is a progressive steno-occlusive arteriopathy of the intracranial circulation affecting the anterior circulation and less often the posterior circulation. Risk factors and severity of disease progression in children with moyamoya and posterior cerebral artery (PCA) stenosis have not been well described in the literature. Previous research has shown an association between PCA stenosis and increased risk of post-operative stroke. We wanted to further explore this relationship in children with moyamoya and delineate the associated risk factors. Methods: Children with moyamoya who underwent surgical revascularization at our institution between December 2015 and December 2022 were reviewed for presence of PCA stenosis. Clinical and radiographic features were compared between children with moyamoya with and without PCA involvement. Categorical variables were compared using Fisher's exact test and continuous variables using Wilcoxon rank-sum. Associations between perioperative stroke and PCA stenosis were analyzes using a multivariate logistic regression. Results: In our cohort of 160 children with moyamoya, 45 (28%) had PCA stenosis; 26 of these 45 (57%) had PCA stenosis at time of diagnosis. Of the 19 children who did not have PCA stenosis at time of diagnosis but developed it during follow up, the median time to development of PCA stenosis was 1.0 years. Children with moyamoya and PCA stenosis had significant more cardiac anomalies than those without (p=0.02). Other associated disorders were found in 13 (28%) including trisomy 21 (6, 13%), cranial radiation (2,4%) and NF1 (3,7%). Interestingly, we found no significant difference in age, sex or prevalence of bilateral disease between the groups. Children with moyamoya and PCA stenosis had a 3.5 higher odds of having a stroke within 2 weeks of surgery (p=0.049). Conclusion: Children with moyamoya and PCA stenosis had a 3 fold higher odds of perioperative stroke compared to those without PCA stenosis. Genetic evaluations may be warranted given association of PCA stenosis and cardiac anomalies.

Case Report: Renal artery stenosis in children: ultrasound as a decisive diagnostic and therapy-accompanying technique!

Case Report: Renal artery stenosis in children: ultrasound as a decisive diagnostic and therapy-accompanying technique!

Results of Transcatheter Therapy with Balloon Versus Stent for Treating Isolated Branch Pulmonary Artery Stenosis in Children and Adolescents: A Midterm Study

Background: Branch pulmonary artery stenosis presents as either an isolated disease or in association with congenital heart diseases (in 2 - 3% of cases). Balloon angioplasty (BA) and stent implantation (SI) are two percutaneous methods that are commonly used to treat this condition. We compared the outcomes of these 2 methods in children and adolescents with isolated branch pulmonary artery stenosis. Methods: Pediatric patients with severe branch pulmonary artery stenosis who were referred to our center and underwent transcatheter insertion via either BA or SI between 2010 and 2019 were studied. Patients’ demographic data, including age, gender, and body weight, were recorded. Standard procedures for BA and SI were applied. Post-procedure angiography and echocardiographic parameters were determined and compared between the 2 groups. Patients who were followed up for at least 2 years were selected for this study, and comparative evaluations were performed during the follow-up. Results: Forty patients with a median age of 2.1 years and a median weight of 10 kg were enrolled in the study, of whom 25 and 15 underwent BA and SI, respectively. The trans-stenotic pulmonary artery pressure gradient significantly reduced immediately after both procedures, but there was no significant difference between the BA and SI groups in terms of pulmonary artery pressure gradient early after the procedures (P-value = 0.014). There was a significant decline in the peak right ventricular pressure after both procedures. Restenosis occurred more frequently in the BA group. In the BA group, patients under one year old and weight lower than 10 kg had a lower restenosis recurrence rate, evidenced by echocardiographic measurements, compared to those with a weight over 10 kg. Three patients (12%) in the BA group needed balloon reinsertion. Conclusions: Immediate therapeutic success was similar between BA and SI in patients with branch pulmonary artery stenosis. Re-stenosis occurred more often in the BA group; however, the chance of re-stenosis was lower among patients weighing less than 10 kg over a 2-year follow-up.

Stenting of branch pulmonary artery stenosis in children: initial experience and mid-term follow-up of the pul-stent

Not all stents are suitable for children. For instance, premounted stents can be used in infants and small children but cannot dilate with age to accommodate adult-sized pulmonary arteries. Conversely, the Pul-Stent adapts to somatic growth. Thus, our hospital implemented the Pul-Stent in pediatric patients with branch pulmonary artery stenosis. This study summarizes our initial experience with Pul-Stents in this patient population, including the efficacy and safety. We implanted 37 Pul-Stents in 35 patients between August 2014 and June 2015. The patients’ mean age and weight at stent implantation were 6.7 ± 3.0 years and 20.9 ± 8.7 kg, respectively. Bench testing revealed that axial shortening of the Pul-Stent was minimal with further dilation, and the radial strength did not change. The stents were successfully deployed in all cases, except two with minor malpositioning. Primarily, 8–12 mm mounting balloons were used for the initial implantation, and a long sheath (8–10 F) was used for delivery. After stent implantation, the minimal lumen diameter in the stenosed segment increased by 50% in 97% (34/35) of patients. Furthermore, the pressure gradient across the stenosed segment decreased by 50% in 77% (23/30) of biventricular patients. One stent fracture and one stent restenosis were noted during the follow-up visits (mean follow-up time: 4.6 ± 1.7 years). Eighteen patients (51%) underwent repeat catheterization; ten had successful redilation. No aneurysms or stent fractures were observed. Our initial results indicate that the Pul-Stent is safe and effective in pediatric patients and can be further dilated over time to accommodate somatic growth. Moreover, the Pul-Stent has good compliance and adequate radial strength to treat pulmonary artery stenosis effectively.

Ultra-high pressure balloon angioplasty for pulmonary artery stenosis in children with congenital heart defects: Short- to mid-term follow-up results from a retrospective cohort in a single tertiary center.

Balloon angioplasty (BA) has been the treatment of choice for pulmonary artery stenosis (PAS) in children. There remains, however, a significant proportion of resistant lesions. The ultra-high pressure (UHP) balloons might be effective in a subset of these lesions. In this study, we analyzed the safety and efficacy with short- to mid-term follow-up results of UHP BA for PAS in children with congenital heart defects (CHD) in our center. This is a retrospective cohort study in a single tertiary heart center. Children diagnosed with PAS associated with CHD were referred for UHP BA. All data with these children were collected for analysis with updated follow-up. A total of 37 UHP BAs were performed consecutively in 28 children. The success rate was 78.4%. A significantly (P = 0.005) larger ratio of the balloon to the minimal luminal diameter at the stenotic waist (balloon/waist ratio) was present in the success group (median 3.00, 1.64-8.33) compared to that in the failure group (median 1.94, 1.41 ± 4.00). Stepwise logistic regression analysis further identified that the balloon/waist ratio and the presence of therapeutic tears were two independent predictors of procedural success. The receiver operating characteristic curve revealed a cut-off value of 2.57 for the balloon/waist ratio to best differentiate success from failure cases. Signs of therapeutic tears were present in eight cases, all of whom were in the success group. Perioperative acute adverse events were recorded in 16 patients, including 11 pulmonary artery injuries, three pulmonary hemorrhages, and two pulmonary artery aneurysms. During a median follow-up period of 10.4 (0.1-21.0) months, nine cases experienced restenosis at a median time of 40 (4-325) days after angioplasty. The UHP BA is safe and effective for the primary treatment of PAS in infants and children with CHD. The success rate is high with a low incidence of severe complications. The predictors of success are a larger balloon/waist ratio and the presence of therapeutic tears. The occurrence of restenosis during follow-up, however, remains a problem. A larger number of cases and longer periods of follow-up are needed for further study.

Anatomical reconstruction of proximal coronary artery stenosis in children.

Timing and method of surgical reconstruction for non-sclerotic proximal coronary artery stenosis, occurring de novo or post-coronary artery transfer, are evolving. We have pursued a technique of anatomical reconstruction of ostial and short segment proximal coronary artery stenosis and atresia in children, using patch plasty or interposition vein graft. Here, we discuss the medium- to long-term outcomes. Nine consecutive children undergoing 10 left main coronary artery reconstructions using autologous great saphenous vein patch (n = 4), autologous pericardium (n = 4), xenopericardium (n = 1) or great saphenous vein interposition graft (n = 1) were retrospectively analysed. Complementary wedge resection of the stenotic coronary ostium was performed in chronic cases. The aetiology of coronary artery stenosis was post-arterial switch operation (n = 6), Takayasu's arteritis (n = 1), idiopathic left main coronary artery atresia (n = 1) and anomalous origin of the left coronary artery from the pulmonary artery (n = 1). The median age and weight at operation were 0.15 (range 0.01-13.1) years and 4.4 (range 3-13.1) kg, respectively. Survival was 100% at the medi follow-up of 12.6 (range 1-19.2) years. All patients showed normal left ventricular ejection fraction on transthoracic echocardiogram. In 1 patient, kinking of the proximal left circumflex artery resulted in non-significant obstruction. In all other cases, follow-up catheter angiography revealed unobstructed coronary arteries. Cardiac magnetic resonance tomography showed no significant perfusion deficit in any child. Anatomical reconstruction of the proximal left coronary artery using autologous saphenous vein may allow optimal restoration of physiological coronary blood flow, keeping the option of future coronary bypass operation open.

Abstract WP176: Compared To Catheter Angiogram MRA Is A Moderate Predictor Of Suzuki Grade In Children With Moyamoya

Introduction: Moyamoya is a progressive cerebral arteriopathy affecting the arteries in the circle of Willis. Suzuki grade for moyamoya using catheter angiogram has been gold standard for the evaluation of moyamoya both in children and adults. Suzuki grade evaluates the amount of stenosis and collateral formation in the cerebral arteries. Magnetic resonance angiography (MRA) non-luminal imaging can overestimate stenosis and underestimate collaterals. With greater use of MRA for diagnosis and follow-up, it is important to understand MRA staging is truly comparable to catheter angiogram. Methods: Study neurologist and interventional radiologist reviewed both catheter angiograms and MRAs without clinical information. The modified Suzuki stage was used to evaluate the MRA. Median time from MRA to catheter angiogram was calculated. Cohen’s Kappa was used to compare modalities of Suzuki grade based on catheter angiogram to modified Suzuki grade by MRA on the same patients. Results: A total of 29 patients with moyamoya were reviewed. Median time between MRA and catheter angiogram was 2.4 months with interquartile range from 0.6-5.3 months. Unweighted Cohen’s Kappa was 0.34 (p<0.0001) which is considered fair correlation. When we calculated a weighted Cohen’s Kappa it improved but only to 0.49 (p<0.0001) which is moderate correlation. Conclusion: Using Cohen’s kappa to compare two methods of evaluating cerebral artery stenosis in children with moyamoya, we demonstrated that there is only moderate correlation between catheter angiogram Suzuki staging compared to modified Suzuki staging with MRA. In conclusion, we suggest caution in the reliance of MRA for diagnosis and follow-up of children with moyamoya. We recommend consideration catheter angiograms at time of diagnosis and with surgical planning.

Medium and long-term follow-up of the Pul-Stent in treating postoperative branch pulmonary artery stenosis in children with congenital heart disease

Objective: To evaluate the effectiveness and safety of Pul-Stent as the treatment of postoperative branch pulmonary artery stenosis in children with congenital heart disease. Methods: This was a retrospective study. Thirty-three patients who underwent Pul-Stent implantation in Shanghai Children's Medical Center due to postoperative residual pulmonary artery stenosis from August 2014 to June 2015 were included. The immediate curative effect, follow-up and complications of Pul-Stent implantation were assessed. Comparisons between groups were performed with unpaired Student t test. Results: Pul-Stent implantation of 33 patients (19 males and 14 females) were performed successfully. Thirty-one patients underwent percutaneous stenting, and 2 patients underwent hybrid stenting. A total of 35 Pul-Stents were implanted (19 of model small, 15 of model medium and one of model large), 23 stents were planted in the proximal left pulmonary artery and 12 stents were in the proximal right pulmonary artery. The initial diameter of dilation balloon ranged from 6 to 16 mm, and the long sheath of percutaneous implantation ranged from 8 to 10 F in 29 patients (29/31, 94%). After stenting, the diameter of the narrowest segment of pulmonary artery increased from (4.0±1.7) mm to (9.1±2.1) mm in all patients (t=-21.60, P<0.001). The pressure gradient at the stenosis in 26 patients after biventricular correction decreased from (30.5±12.3) mmHg (1 mmHg=0.133 kPa) to (9.9±9.6) mmHg (t=12.92, P<0.001), and the right ventricular to aortic pressure ratio decreased from 0.57±0.14 to 0.44±0.12 (t=7.44, P<0.001). The pressure of the superior vena cava after stenting in 5 patients after cavopulmonary anastomosis decreased from (17.0±1.9) mmHg to (14.0±0.7) mmHg (t=2.86, P=0.046). Two patients died during reoperation for repairing other cardiac malformations. The remaining 31 patients were clinically stable during the follow-up period of (5.3±1.6) years, and one stent fracture was found on chest X-ray. Cardiac catheterization reexaminations in 16 patients showed that restenosis was found in one stent, while stent position and patency were satisfactory in the remaining stents. Nine children underwent post-dilation without stent fracture, displacement or aneurysm formation. Cardiac tomography showed no stent stenosis, fracture observed, or significant change in diameter of the stent in 8 patients. The inner diameter and pulmonary blood perfusion could not be accurately evaluated due to artifacts by cardiac magnetic resonance imaging in 4 patients. Conclusions: Pul-Stent has good compliance and adequate radial strength, and can dilate further over time to accommodate for somatic growth. It performs safely and effectively in treating post-operative branch pulmonary artery stenosis in children.

Stenting of Branch Pulmonary Artery Stenosis in Children: Initial Experience and Midterm Follow-Up of the Pul-Stent

Stenting of Branch Pulmonary Artery Stenosis in Children: Initial Experience and Midterm Follow-Up of the Pul-Stent

Diagnosing Renal Artery Stenosis in Children: Point-CTA Serves an Important Role in Diagnosis and Guiding Management.

This article does not include an abstract. Please see the accompanying Counterpoint by Anne Marie Cahill.

Diagnosing Renal Artery Stenosis in Children: Counterpoint-Angiography Is the Order of the Day.

This article does not include an abstract. Please see the accompanying Point by Siddharth P. Jadhav and Prakash M. Masand.

Diagnostic sensitivity and specificity of CT angiography for renal artery stenosis in children.

Children with suspected renal artery stenosis (RAS) are screened with renal Doppler ultrasonography or computed tomography (CT) angiography/magnetic resonance (MR) angiography depending on institutional preference. CT angiography produces images with superior resolution, allowing higher quality multiplanar two-dimensional reformats and three-dimensional reconstructions. However, there is a paucity of data in the literature regarding the utility and diagnostic performance of renal CT angiography in pediatric RAS. The objective of this study is to retrospectively review our experience with renal CT angiography in the diagnosis of pediatric RAS relative to digital subtraction angiography (DSA) as the reference standard. All patients 0-18years of age who underwent CT angiography for evaluation of RAS as a cause of hypertension between January 2012 and May 2019 were identified for the study. A total of 131 patients were identified, 23 of whom had DSA correlation. Twenty-three patients (17 boys, 6 girls) with a mean age of 6years 3months (range: 3months to 14years 7months) were included in this study. Of the 59 renal arteries studied by DSA, 22 were abnormal on CT angiography and 20 were abnormal on DSA. Of the 59 renal arteries, CT angiography was true positive in 18 and true negative in 35. The sensitivity and specificity of CT angiography for RAS diagnosis were 90.0% and 89.7%, respectively. CT angiography identified all cases of main RAS. Renal CT angiography has a high sensitivity and specificity for pediatric RAS diagnosis in patients referred for DSA.

Bilateral renal artery stenosis in children with vomiting and hypokalemia

Çocuklarda hipertansiyon nedenleri arasında sekonder nedenler ön plandadır. Bu nedenle hipertansiyonun erken tanınması ve tedavi altına alınması, çocukların ilerleyen yaşlarında yaşam kalitesinin artması ve kronik hastalıklardan korunması açısından öncelikli hedeftir. Hipertansiyonu olan çocuklar farklı klinik bulgular ile başvurabilir. Bu yazıda20 gündür olan kusması nedeniyle tetkik edilirken hipokalemi saptanan, fizik muayene esnasında ölçülen kan basıncı 205/115 mmHg olan ve yapılan tetkiklerinde bilateral renal arter darlığı tespit edilen 10 yaşındaki erkek olguyu sunmayı amaçladık. Bu sunumda çocukluk çağında kan basıncı ölçümünün rutin fizik muayenenin bir parçası olması gerektiğini ve hipertansif çocuk olguların farklı klinik bulgular ile gelebileceğini vurgulamak, ayrıca hipertansiyon tanı algoritmasını gözden geçirmek amaçlanmıştır.

Premounted stents for branch pulmonary artery stenosis in children: A short term solution

Define outcomes of premounted stent implantation (PMS) for branch pulmonary artery stenosis (BPAS). PMS for BPAS in children raises concern of long term viability, with limited maximal expansion. We reviewed our cardiac database over an 11-year period ending in 2013. Primary endpoint was need for surgical stent intervention (SSI). Other endpoints included acute results and repeat interventions (RI). 82 PMS were implanted in 60 children for BPAS. Median weight was 6.3 (25th -75th 4.6-9.8) kg. Median stent diameter was 6 (range 4-9) mm. Acutely, vessel diameter improved from 2.0 (25th -75th 1.6-3.4) to 5.0 (25th -75th 4.2-5.9) mm (p < 0.001), pressure gradient decreased from 41 (25th -75th 29-50) to 11 (25th -75th 7-18) mmHg (n = 47, p < 0.001), RV:Ao pressure ratio decreased from 100% (25th -75th 85-110%) to 59% (25th -75th 49-74%) (n = 40, p < 0.001). Freedom from SSI was 81% at 1 year and 35% at 5 years. Freedom from RI was 50% at 1 year and 14% at 5 years. 86% of PMS underwent SSI during a concomitant planned cardiac surgery. 45% patients had stent redilation, improving stent diameter from 4.6 (25th -75th 4.1-5.4) to 5.7 (25th -75th 4.9-7) mm (p < 0.001). 1 stent (3%) was able to be fractured longitudinally. PMS is an effective short term solution for BPAS in children. PMS is associated with expected early need for transcatheter reintervention to accommodate for growth, but also has high rates of SSI.

TCT-60 Stent Treatment of Branch Pulmonary Artery Stenosis in Children With Congenital Heart Disease After Cardiac Surgery

Residual or recurrent branch pulmonary artery stenosis is a common finding after cardiac surgery for congenital heart disease. We report our experience using stents to treat branch pulmonary artery stenosis in children with congenital heart disease following surgical correction of stenotic or

Intraoperative Stenting of Pulmonary Artery Stenosis in Children With Congenital Heart Disease

Branch pulmonary artery (BPA) stenosis is frequently associated with congenital heart disease. Management of BPA stenosis is challenging for surgeons due to a high rate of recurrence. The purpose of this study was to assess the results of intraoperative pulmonary artery stenting associated with or without surgical angioplasty. We included 33 children from our center between January 2008 and July 2014. Patients had pulmonary atresia with ventricular septal defect (13), tetralogy of Fallot (10), troncus arteriosus (4), double outlet right ventricle (2), and single left or right ventricle (4). A total of 44 balloon-expandable stents (mean diameter, 9.5 mm; range, 4 to 16 mm) were deployed in left or right PA under direct visualization, without the use of fluoroscopy, after branch angioplasty for 28 of them (64%). The mean age at surgery was 4.3 ± 4.3 years (range, 6 days to 15 years) and the mean weight was 14.3 ± 11.9 kg (range, 2.8 to 63 kg). Postoperative mortality was 9% (3 patients), but only 1 death was related to the stenting procedure. Twenty-five patients underwent angiographic control after a mean follow-up of 22 months after surgery. All stents were well positioned. The mean stented BPA Z-score increased from -2.6 ± 1.8 to -0.4 ± 1.6 (p < 0.0001). Eleven patients experienced intrastent proliferation (44%). Among them, 2 patients required a reoperation for severe intrastent stenosis, whereas the 9 others had mild intrastent neointimal proliferation, which was successfully managed by balloon expansion. Intraoperative stenting of BPA is a safe and effective option to treat BPA stenosis and prevent recurrence.

Extracranial internal carotid artery stenosis in children with sickle cell disease - Which transducer, what measurement?

Transcranial Doppler ultrasound is used to screen and assess the intracranial arteries of children with sickle cell disease. Recent findings suggest that extracranial internal carotid artery (eICA) stenosis is also a contributing factor to silent cerebral infarction. Stenosis has been measured using phased array transducers with no beam/flow angle correction and linear arrays with angle correction. A total of 124 children undergoing TCD assessment were investigated for eICA velocities. Manual measurements of peak systolic velocity and TCD mean velocity were made with phased and linear array transducers. Peak systolic velocities ranged from 60 to 534 cm/s (median 126 cm/s) using the linear array and 53 to 394 cm/s (median 115 cm/s) using the phased array transducers. TCD mean ranged from 39 to 419 cm/s (median 81 cm/s) using the linear array and 34 to 295 cm/s (median 72 cm/s) using the phased array transducers. There are advantages and disadvantages of each method, but stenoses were readily identified as focal velocity increases. We suggest thresholds for each transducer and recommend that imaging of the eICA forms part of screening for this group of children.

Assessment of branch pulmonary artery stenosis in children after repair of tetralogy of Fallot using lung perfusion scintigraphy comparison with echocardiography

The aim of this study was to compare the usefulness of lung perfusion scintigraphy and echocardiogram in the evaluation of the branch pulmonary arteries stenosis in children with tetralogy of Fallot (TOF). From February 2006 to November 2008, 74 children (mean age 7.8 years, range 1–18 years) who underwent repair of TOF at ages from 10 months to 13 years were suspected to have unilateral or bilateral branch pulmonary artery stenosis. In all patients, cardiac angiography was performed to confirm the diagnosis of branch pulmonary artery stenosis. Lung perfusion scintigraphy and two-dimensional transthoracic echocardiography were performed in all patients to compare their abilities to diagnose branch pulmonary artery stenosis. Of the 74 patients, 51 cases were found to have branch pulmonary artery stenosis by cardiac angiography. There was agreement between the scintigraphic and angiographic findings in 44 (86%) patients and there were discrepancies in 11 (15%) patients. The positive predictive value of our lung perfusion scintigraphy in detecting the branch pulmonary artery stenosis was 92 %. The positive and negative likelihood ratios of lung perfusion scintigraphy were 4.96 and 0.17, respectively. There was conformity between the echocardiographic and angiographic findings in 40 (78%) patients with discrepancies in 16 (21%) patients. The positive predictive value of our echocardiography in detecting the branch pulmonary artery stenosis was 89%. The positive and negative likelihood ratios of echocardiography were 3.61 and 0.28, respectively. Lung perfusion scintigraphy is a valuable, non-invasive screening tool in the assessment of branch pulmonary artery stenosis in children after TOF.

0176: Intraoperative pulmonary artery stenting for management of pulmonary artery stenosis in children with congenital heart diseases: a single center 5-year experience

Patients with Congenital Heart Diseases (CHD) often suffer from severe pulmonary artery (PA) stenosis. Management of PA stenosis is challenging for surgeons. The purpose of this study was to assess the results of intraoperative pulmonary artery stenting, performed additionally to, or instead of, conventional surgical angioplasty. Between January 2008 and August 2013, 31 children with hypoplastic or stenosed PA, median age of 23 months (range 6 days to 15 years), and median weight of 11,8kg (range 2,8 to 63kg), underwent intraoperative placement of stents in PA. Patients had pulmonary atresia (15) tetralogy of Fallot (10) troncus arteriosus (4), and complex CHD (2). The aim of the concomitant surgical procedure was palliative surgery (10), complete repair (12), or improvement of right ventricular outflow tract after complete repair (9). A total of 42 balloon-expandable stents were deployed in left or right PA. Maximum balloon diameters ranged from 3 to 16mm (mean=9). Post-operative mortality was 9,6% (3 patients) and 2 patients did not have complete follow-up. Eighteen patients underwent angiographic control, at a mean follow-up of 15 months (± SD 10 months) after surgery. Mean PA diameter increased from 5,19 to 7,57mm (p<0,001). Eight patients did not have angiography to date because routine echocardiography follow-up showed patent pulmonary arteries, with low residual gradient. Two patients (7,6%) needed a reoperation for severe intra-stent stenosis. Nine patients (34,6%) had repeated dilatation, performed percutaneously or during further intervention to complete repair of their CHD. Intraoperative stenting of PA is an effective option to prevent recoil and external compression. However, smaller stents seem to be at higher risk of intra-stent proliferation.

Renal artery stenosis due to neurofibromatosis type 1: case report and literature review

BackgroundNeurofibromatosis type 1 (NF1) is a relatively common autosomal dominant disorder. The most common vascular abnormality in patients with NF1 is bilateral or unilateral renal artery stenosis.Case reportA 16-year-old boy presented with a headache of 4-year duration and was found to be moderately hypertensive. On physical examination, axillary freckling and multiple café-au-lait spots were revealed over the trunk, while numerous small nodules were palpable on the limbs. Biopsy of subcutaneous nodule showed neurofibroma. Lisch nodules were identified on slit-lamp examination and grade I hypertensive retinopathy was present on fundoscopy. Clinical laboratory investigations revealed that renal and liver function tests, blood cells count, urinalysis, serum electrolytes, serum levels of renin and aldosterone, and 24-hour urine levels of catecholamines were all within normal ranges. Abdominal ultrasound and CT were normal. Both kidneys were of normal size. CT angiography showed right renal artery stenosis (>90%) at the ostium. The final diagnosis of NF1 with right renal artery stenosis and secondary hypertension was then made. The patient was treated with Procardin (30 mg/d) and improved with a significant decline in blood pressure. The main outcomes were to control blood pressure without necessarily proceeding with PTRA. We also present a review of the literature.ConclusionsNF1 may present with hypertension due to renal artery stenosis in children. All young patients (<30 year) with hypertension should be clinically screened for secondary causes of hypertension, including NF1, so that renal revascularization can be offered before permanent end organ damage has occurred. First-line management using medication alone could be appropriate, keeping the interventional options for when the patient's condition deteriorates.