Mid-aortic Syndrome in a Pediatric Cohort.

Mid-aortic syndrome (MAS) is an uncommon condition characterized by severe narrowing of the abdominal aorta, usually involving visceral and renal arteries. Most patients are asymptomatic and typically present with incidental hypertension which might evolve into end-organ damage if untreated. Our aim was to review 8 new pediatric MAS cases. A retrospective observational study of all pediatric patients with MAS diagnosis (April 1992-November 2021) was conducted. Patients underwent systematic evaluation (medical and family history; 12-lead electrocardiogram; echocardiogram; angiography and/or computed tomography or magnetic resonance angiography). 8 pediatric patients with MAS were included. Median age at diagnosis was 2.6 [0.2-4.7] years; median follow-up time was 8.6 [6.6-10.0] years. 6/8 patients presented with incidental hypertension, 1/8 with heart murmur, and 1/8 with heart failure symptoms. All patients were on antihypertensive treatment. 1/8 patients underwent surgery and 7/8 an endovascular treatment. At the end of the study period, among the 6 patients that underwent a successful endovascular procedure, 2 achieved good blood pressure (BP) control, 2 acceptable BP control, 1 stage 1 hypertension and, another, stage 2 hypertension. There was 1 death during follow-up. BP monitoring in pediatric patients is crucial for early recognition of MAS. Treatment should be based on the individual clinical characteristics of patients with careful planning of surgical revascularisation, if possible, after adult growth is completed. Our study demonstrates that endovascular treatment might be a good alternative to surgery. Nevertheless, further trials with larger sample size and longer-term follow-up are required to determine the best treatment approach.

Mid-aortic syndrome diagnosed by transesophageal echocardiogram in a patient with dilated cardiomyopathy.

Mid-aortic syndrome is a rare condition characterised by segmental narrowing of the thoracoabdominal aorta. Here, we demonstrate a case of mid-aortic syndrome in a 30-month-old female who was diagnosed via transesophageal echocardiography after presenting with dilated cardiomyopathy and severe heart failure requiring placement of a left ventricular assist device.

Myhre syndrome: expanding its paediatric phenotypic spectrum.

Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatric cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome. This confirms and extends the scarce reports describing the association between these two entities.

Stent-Graft Placement for Radiation-Induced Abdominal Aortic Stenosis after Renal Autotransplantation.

Renovascular hypertension (RVH) is a common cause of secondary hypertension. However, there have been no reports on RVH due to radiation-induced abdominal aorta stenosis after renal autotransplantation. A 27-year-old woman with a history of neuroblastoma treated by radiation therapy and RVH treated with renal autotransplantation presented with hypertension and dyspnea. At age 19, she had experienced hypertensive heart failure due to RVH from radiation-induced left renal artery stenosis and had undergone renal autotransplantation involving the extraction of her left kidney. Her systolic blood pressure (BP) was well-controlled but had increased progressively. She was diagnosed with hypertensive heart failure and admitted to hospital. Although her dyspnea soon subsided after treatment, her BP remained high. Renal artery ultrasound revealed no obvious stenosis. The ankle brachial pressure index (ABI) showed a significant bilateral decrease to 0.71/0.71 (right/left) from 0.94/0.95 eight years before. Magnetic resonance angiography and aortic angiography revealed severe stenosis in the abdominal aorta, and the systolic pressure gradient of intra-aortic blood flow, distal and proximal to a stenotic lesion, was 58 mmHg. These arterial stenoses in the irradiated area were highly suggestive of radiation-induced vasculopathy. She finally underwent an endovascular VIABAHN VBX balloon-expandable stent-graft placement for this radiation-induced abdominal aorta stenosis, which resolved the pressure gradient. After the procedure, her ABI improved to 0.91/0.88 and her BP was well-controlled. This is the first case of successful stent-graft placement for RVH after renal autotransplantation due to radiation-induced abdominal aorta stenosis as a consequence of neuroblastoma.

ELN missense variant in patient with mid-aortic syndrome case report.

BACKGROUND: Mid-aortic syndrome (MAS) is characterized by the congenital coarctation of the abdominal aorta, abdominal and limb claudication, and hypertension. The etiology of this disorder is very diverse and often manifests in conjunction with Takayasu's arteritis, Williams-Beurens syndrome, and neurofibromatosis. The isolated mid-aortic syndrome is very rare with only a few cases reported in the literature. CASE PRESENTATION: A 45 years old man was admitted to the Emergency Department with sudden muscle weakness and facial paralysis on the left side. Imaging studies reveal right middle cerebral artery infarction at the M1 section. Incidental findings include multiple moderate to severe stenoses in the right internal carotid artery, and total abdominal aorta occlusion. A variant at the ELN gene (Elastin, OMIM*130,160): c.1768G > A/wt (p.Ala590Thr) was identified. CONCLUSION: This is the first reported case of ELN related mid-aortic syndrome in Vietnam which was diagnosed through careful clinical and genetic workup. The finding of mid-aortic syndrome, in this case, was incidental and the decision to reverse the occlusion was postponed as there was no immediate risk of renal failure or reduced blood flow to the lower limb.

Timing of procedural interventions in childhood renovascular hypertension.

BACKGROUND: Renovascular hypertension (RVHTN) is a rare, often complex condition due to multiple etiologies including congenital stenoses, vasculitides, and fibromuscular dysplasia. Among children with RVHTN who require multiple and escalating medications to control blood pressure, the optimal timing of a procedural intervention involves a balance of numerous factors. CASE-DIAGNOSIS/TREATMENT: In this presentation of a 1-month-old girl with RVHTN, the treating medical team had to consider multiple factors in the initial management and timing of interventions to treat her underlying cause of RVHTN, including concerns for kidney health, degree of hypertension, age and size of the patient, and potential methods of procedural intervention. Initially, she was treated conservatively until concern for poor renal growth arose and a durable surgical intervention was thought feasible and safe. CONCLUSION: The evidence regarding the timing of non-medical interventions in pediatric RVHTN is limited. Considerations should include patient age, size, disease severity, comorbid conditions, and degree of medical management required to maintain safe blood pressures that allow for growth and reverse cardiac damage. The optimal interventions have not been evaluated by controlled trials and should be decided on a case-by-case basis with consideration of center expertise and family preferences.

An Uncommon Cause of Hypertensive Urgency in Young Adolescent: Case Report.

Mid aortic syndrome is rare cause of hypertensive urgency in children with poor outcome if left untreated, high index of suspicion with prompt management is the key to survival with good outcome. A 12-year-old boy was presented with fever, puffiness of face, and breathing difficulty. Clinically, he had hypertension with differential pulsation and BP in upper and lower limbs. He had peak systolic gradient of 80 mm Hg between upper and lower limb. His echocardiography and CT angiography was suggestive of significant isolated 80% narrowing of abdominal aorta without involvement any other large vessels. Percutaneous balloon dilatation of aorta was done considering multiple parameters. Post procedure, there was significant improvement in BP and we could wean his multiple anti-hypertensive drugs to keep his blood pressures below 95th centile. His BP remained control with minimum upper and lower limb gradient on follow up of almost 1 year. HOW TO CITE THIS ARTICLE: Dekate PS, Reddy S, Prasad VSV, Boda S, Saini L, Patil P. An Uncommon Cause of Hypertensive Urgency in Young Adolescent: Case Report. Indian J Crit Care Med 2019;23(7):339-341. KEY MESSAGE: Mid aortic syndrome is most uncommon amongst them. With prompt diagnosis and proper selection of therapeutic options like balloon dilatation or surgical correction, it has good prognosis. Aortic narrowing because of different diseases is an uncommon cause of HT urgency in children.

Endovascular stenting of mid-aortic syndrome due to Takayasu arteritis.

Introduction-patients: Takayasu arteritis may involve various parts of the aorta and its major branches. It leads to occlusive or aneurysmal disease of the vessel. It can be treated either with surgery or percutaneous intervention. We report a successful endovascular treatment of stenosis of the descending thoracic and abdominal aorta in a 19-year-old female. Methods-results-conclusions: Self-expandable nitinol stent was deployed and adequate opening of the aorta was obtained in this patient. Long-term durability of endovascular approach is a matter of debate. We also reviewed the sufficiency of endovascular treatment versus surgery.

A rare cause of cardiomyopathy in an infant: middle aortic syndrome.

Coarctation of the abdominal aorta is a rare condition with a handful of cases reported in infancy. We report the case of a 4-month-old infant with severe abdominal coarctation who presented with dilated cardiomyopathy. Following successful transcatheter-based stenting of her abdominal aorta, her cardiomyopathy resolved.

Transcatheter management of mid-aortic syndrome secondary to myofibroma presenting in infancy with severe left ventricular dysfunction: a case report.

In this study, we summarise a case of a myofibroma causing mid-aortic syndrome due to obstruction of the distal thoracic and abdominal aorta leading to severe left ventricular dysfunction. The patient was managed with percutaneous intervention via balloon dilation and stent placement. On follow-up, the patient has normalisation of ventricular function, is off anti-hypertensives, and is being monitored for re-stenosis.

Parachute Mitral Valve and Mid-Aortic Syndrome - Unusual Associations of Alagille Syndrome.

Background: Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. Case description. Case 1: A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms. Case 2: A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13-14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management. Conclusion: PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients. LEARNING POINTS: Alagille syndrome (ALGS) is a complex multisystem disorder involving the liver, heart, skeleton, face, and eyes. Cardiovascular involvement occurs in up to 95% of the patients.Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF).A parachute mitral valve (PMV) presenting as mitral stenosis and mid-aortic syndrome is not commonly described anomalies in association with ALGS. Here, we present such rare cases.

Impaired Aortic Growth in Neuroblastoma Patients After Intensive Treatment.

PURPOSE: This study evaluated the abdominal aortic diameter in high-risk neuroblastoma (NB) patients and the risk of aortic narrowing following intensive treatment. METHODS: We measured the aortic diameter at four specific levels of the abdominal aorta (diaphragmatic crus, celiac axis, and the root of the superior (SMA) and inferior (IMA) mesenteric arteries) on contrast CT scans. The control group consisted of 56 children with non-oncologic disorders, while the NB group included 35 patients with high-risk abdominal NB. We used regression analysis of age and aortic diameter to determine the regression formula for each level in each group and performed intergroup comparisons using t-test. RESULTS: We evaluated a total of 160 contrast-enhanced CTs performed in the 35 eligible cases. The aortic diameter of pretreated NB patients was not significantly different from the controls. After receiving any treatment, the aortic diameter was significantly smaller in the NB group (p < 0.01 each). Patients who underwent radical surgery, particularly gross total resection (n = 26), had smaller aortic diameters at all levels compared to controls (p < 0.01 each). Patients treated with radiotherapy (RT) had smaller aortic diameters than controls. External beam radiotherapy (EBRT) patients (n = 24) had smaller aortic diameters at all levels except the celiac axis (crus, SMA, IMA; p < 0.01 each), and intraoperative radiotherapy (IORT) ± EBRT patients (n = 5) had smaller aortic diameters at all levels (p < 0.01 each). CONCLUSION: Patients with NB may experience impaired development of the abdominal aorta after multimodal therapy, particularly after RT. Close observation and long-term follow-up is essential to monitor for catastrophic vascular complications. LEVEL OF EVIDENCE: LEVEL III.

Hypertension in the Neonatal Intensive Care Unit (NICU): A Case of Mid-Aortic Syndrome.

A term baby was born with findings of edema, harsh murmur, and hypertension. Pregnancy course was complicated by hydrops fetalis. Upon birth, blood work did not reveal any abnormalities, but an echocardiogram showed patient in high-output heart failure. A computed tomography (CT) chest, abdomen, and pelvis revealed narrowing of aorta in the thoracic region to distal iliac and renal arteries, consistent with mid-aortic syndrome. Mid-aortic syndrome, which results in the narrowing of thoracic or abdominal aorta, is a rare cause of hypertension, especially in newborns. This case elucidates the importance of maintaining a broad differential when encountering an uncommon problem in a newborn.

Successful Surgical and Endovascular Multidisciplinary Therapy for Mid-aortic Syndrome with Complicated Atherosclerotic Comorbidities in an Older Patient.

Mid-aortic syndrome (MAS) is a rare vascular disorder that causes refractory hypertension. A 76-year-old woman was hospitalized for acute heart failure (HF) with drug-resistant hypertension; other comorbidities included epigastric artery rupture, old myocardial infarction, an intraventricular thrombus, and a cerebral artery aneurysm. Angiography revealed severe narrowing of the descending aorta, which led to the diagnosis of MAS. Although intensive medical treatment improved her HF, optimal blood pressure (BP) could not be achieved. Percutaneous coronary intervention and surgical bypass for diseased aorta was then performed in two stages, resulting in the achievement of optimal BP and alleviation of HF.

Paediatric Takayasu's arteritis complicated by thrombotic occlusion of the distal thoracic aorta.

We present the case of a 1-year-old girl with mid-aortic syndrome due to untreated Takayasu's arteritis who developed cardiogenic shock. Enhanced computed tomography revealed long-segment occlusion of the distal thoracic aorta. We successfully performed graft interpose (10 mm in diameter) under cardiopulmonary bypass through both median sternotomy and left posterolateral thoracotomy. The thrombus was relatively small and the distal thoracic aorta was narrow over a long segment due to severely thickened intima. Follow-up computed tomography showed widely patent graft without a stenotic region in the abdominal aorta or its branches. The patient discharged ambulatory without major complications.

Mid-aortic syndrome: a rare cause of heart failure in infants.

This case reports describe a rare disease, mid-aortic syndrome (MAS), that can cause severe heart failure and hypertension in infancy. The typical images, key points of diagnosis, and therapy methods of the disease have also been presented. We report two critical thoracoabdominal aortic coarctation cases in infants aged 2 and 11 months with severe heart failure. The patients were initially misdiagnosed as dilated myocardiopathy, with the correct diagnosis confirmed through imaging. Both patients underwent balloon angioplasty; one patient also had bare-metal stents implanted. The patient treated with balloon angioplasty alone died after the procedure, whereas the other patient recovered well. In conclusion, careful physical examinations, especially upper and lower extremity blood pressure differences and palpation of upper and lower limb pulses, are critical in unexplained infant heart failure cases. Stent implantation may be a safer and more effective treatment than simple balloon angioplasty in infants with MAS.

Case report: Personalized transcatheter approach to mid-aortic syndrome by in vitro simulation on a 3-dimensional printed model.

An 8-year-old girl, diagnosed with mid-aortic syndrome (MAS) at the age of 2 months and under antihypertensive therapy, presented with severe systemic hypertension (>200/120 mmHg). Computed tomography (CT) examination revealed aortic aneurysm between severe stenoses at pre- and infra-renal segments, and occlusion of principal splanchnic arteries with peripheral collateral revascularization. Based on CT imaging, preoperative three-dimensional (3D) anatomy was reconstructed to assess aortic dimensions and a dedicated in vitro planning platform was designed to investigate the feasibility of a stenting procedure under fluoroscopic guidance. The in vitro system was designed to incorporate a translucent flexible 3D-printed patient-specific model filled with saline. A covered 8-zig 45-mm-long Cheatham-Platinum (CP) stent and a bare 8-zig, 34-mm-long CP stent were implanted with partial overlap to treat the stenoses (global peak-to-peak pressure gradient > 60 mmHg), excluding the aneurysm and avoiding risk of renal arteries occlusion. Percutaneous procedure was successfully performed with no residual pressure gradient and exactly replicating the strategy tested in vitro. Also, as investigated on the 3D-printed model, additional angioplasty was feasible across the frames of the stent to improve bilateral renal flow. Postoperative systemic pressure significantly reduced (130/70 mmHg) as well as dosage of antihypertensive therapy. This is the first report demonstrating the use of a 3D-printed model to effectively plan percutaneous intervention in a complex pediatric MAS case: taking full advantage of the combined use of a patient-specific 3D model and a dedicated in vitro platform, feasibility of the stenting procedure was successfully tested during pre-procedural assessment. Hence, use of patient-specific 3D-printed models and in vitro dedicated platforms is encouraged to assist pre-procedural planning and personalize treatment, thus enhancing intervention success.

Central-variant posterior reversible encephalopathy syndrome in an infant with mid-aortic syndrome: A rare case of symmetric basal ganglia lesions.

Central-variant posterior reversible encephalopathy syndrome is an atypical subtype of posterior reversible encephalopathy syndrome that occurs during rapid fluctuations in blood pressure, leading to cerebrovascular autoregulatory failure and endothelial dysfunction. Few reports have described posterior reversible encephalopathy syndrome in infants. A 4-month-old girl, who was diagnosed a month before with hypoxic ischemic encephalopathy due to sudden cardiac arrest, showed persistent renovascular hypertension with a systolic blood pressure of 200 mmHg. Computed tomography of the head revealed a new-onset low-attenuation area in the bilateral basal ganglia, and computed tomography of the trunk revealed severe long-segment narrowing of the abdominal aorta encompassing the bilateral renal arteries. She was treated with antihypertensive drugs and peritoneal dialysis. Follow-up imaging after blood pressure stabilization showed resolution of the low-attenuation area in the bilateral basal ganglia. We diagnosed her basal ganglia lesions as central-variant posterior reversible encephalopathy syndrome. She suffered from neurological sequelae attributable to hypoxic ischemic encephalopathy but showed no evidence of basal ganglia dysfunction. Here, we report a case of infantile central-variant posterior reversible encephalopathy syndrome involving bilateral basal ganglia lesions with mid-aortic syndrome. The differential diagnosis of infantile symmetric bilateral basal ganglia lesions is broad and includes genetic, acquired metabolic or toxic, infectious, inflammatory, vascular, and neoplastic pathologies. Among them, central-variant posterior reversible encephalopathy syndrome is rare but important because neurological prognosis may be favorable, and specific treatment, such as administration of antihypertensive drugs or discontinuation of drugs that induce posterior reversible encephalopathy syndrome, is possible.

Management of percutaneous treatment of aorta coarctation diagnosed during pregnancy.

Management of coarctation of the aorta (CoA) during pregnancy is complicated by increased procedural risks to the pregnant woman and her fetus. The aim of this research was to analyze 10-years of experience of CoA treatment diagnosed during pregnancy. During 2010-2020 we performed percutaneous stents implantations (SI) in 4 women during 15-23 weeks of pregnancy and in 6 women 48 hours - 5 years after delivery. In all presented cases, successful CoA repair was achieved. There was a significant decrease of peak-to-peak invasive systolic pressure gradient across the CoA (60.0±31.2 and 11.8±7.3 mmHg, p=0.001) and mean noninvasive systolic arterial pressure (163.0±46.2 and 120.5±9.2 mmHg, p=0.01) after SI. All percutaneously treated women during pregnancy (n=4) delivered healthy full-term babies. At follow-up (from 2 months to 10 years), all 10 women are alive without significant Doppler gradient across CoA with no signs of aortic aneurysm formation. To the best of our knowledge, we presented the largest published cohort of CoA percutaneous treatment during pregnancy. We categorized our experience in managing aortic coarctation diagnosed during pregnancy in one algorithm. Our experience demonstrates that excellent maternal and neonatal pregnancy outcomes can be obtained in women after CoA percutaneous repair, diagnosed during pregnancy. An aortic stent implantation is effective and safe for both mother and fetus.