Search

Objective: Aberrant subclavian artery (aSCA) is a rare anatomic variant whose association with other aortic branch variations and aortic pathology has yet to be established. Knowledge of such an association could be relevant to recommendations for screening and awareness as associated variations are important for operative planning. We describe the incidence of aSCA variations, its association with aortic pathology, and a proposed classification system., Methods: The thoracic cross-sectional imaging database at Keck Hospital of the University of Southern California from 2006 to 2018 was queried for presence of aSCA. Studies were evaluated for aSCA laterality, variant anatomy, and aortic and branch vessel disease. Medical records were reviewed for associated symptoms and diagnoses. The primary outcome was association of aSCA with aortic pathology (aneurysm or dissection). Secondary outcomes were comparison of right and left aSCA, comparison between the sexes, and creation of a proposed classification system., Results: Of 98,580 axial imaging studies, 810 studies (0.82%) were identified with aSCA in 312 unique patients. Right aSCA made up the majority of cases (90.1%). All aSCAs had a retroesophageal course. Kommerell's diverticulum (KD) was present in 184 (59%) with an average diameter of 1.67 cm (range, 1.2-3.3 cm). KD was more frequent (84% vs 56%; P = .0003) and larger (2.05 cm vs 1.61 cm; P < .0001) in left aSCA patients. When present, KD was more often symptomatic in left aSCA compared with right aSCA (77.4% vs 49.1%; P = .005). Dysphagia, chest pain, reflux, and asthma were all more common in left aSCA patients. KD was also more common in men (73.3% vs 50%; P < .0001) and larger in men (1.81 cm vs 1.54 cm; P < .0001) but with no difference in symptoms between sexes. Our proposed classification system based on aortic arch branching is as follows: type 1, left arch with right aSCA (59.9%); type 2, left arch with common carotid trunk and right aSCA (30.1%); type 3, right arch with left aSCA (9.6%); and type 4, right arch with common carotid trunk and left aSCA (0.3%). Subtypes describe the right vertebral artery (RVA) and left vertebral artery (LVA) origin: subclavian (s, RVA 90.1%, LVA 96.8%), carotid (c, RVA 9.6%, LVA 0.3%), or arch (a, RVA 0.3%, LVA 2.9%). Overall, 9.9% (31/312) had associated aortic pathology, although the study was underpowered to detect a difference between right aSCA and left aSCA (9.3% vs 16.1%; P = .213). Type 3 and type 4 arches more often have associated aortic pathology, KD, and symptoms., Conclusions: aSCAs are frequently symptomatic and commonly associated with aortic dissection and aneurysm. Our proposed classification scheme depicts all four aSCA arch variants and accounts for vertebral artery origin variation. These variants are common, and vertebral anatomy can differ greatly. Knowledge of these anatomic variations is critical to planning for endovascular and open repair of aortic arch pathology., (Copyright © 2020 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)

Aberrant right subclavian artery, or arteria lusoria, is a common congenital anomaly of the aortic arch and may be associated with dysphagia. Surgical treatment, particularly in children, remains controversial. Current surgical interventions include supraclavicular and thoracotomy approaches, as well as hybrid endovascular techniques. However, these techniques have significant limitations and varying degrees of success. This case report describes a 2-site operation whereby the arteria lusoria is transected via a left thoracotomy and subsequently re-implanted into the right common carotid artery via a median sternotomy. This approach has provided complete symptom resolution for dysphagia lusoria in 2 children., (Copyright © 2020 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Objective: We present the prenatal diagnosis of a class II 1q21.1 microdeletion in monozygotic (MZ) twins with discordant phenotypes., Case Report: A monochorionic diamniotic twin pair presented with discordant ultrasound anomalies; twin A had cardiovascular abnormalities, while twin B did not. No specific complications were noted in the twins during pregnancy. A single nucleotide polymorphism array revealed an identical class II 1q21.1 microdeletion inherited from a phenotypically normal mother and identified the twins as MZ. The deleted region encompassed both the proximal 1q21.1 thrombocytopenia absent radius syndrome region and the distal 1q21.1 recurrent microdeletion region. No other rare copy number variants (CNVs) were identified, and concordance was observed in the CNVs between the twins., Conclusion: Discordant cardiovascular abnormalities may occur in MZ twins carrying the same class II 1q21.1 microdeletion. Further studies involving discordant MZ twins are needed to determine the modifying factors of the phenotypic heterogeneity of the microdeletion., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest., (Copyright © 2020. Published by Elsevier B.V.)

The transition from fetal to neonatal life is a dramatic and complex process involving extensive physiologic changes, which are most obvious at the time of birth. Individuals who care for newly born infants must monitor the progress of the transition and be prepared to intervene when necessary. In the majority of births, this transition occurs without a requirement for any significant assistance. If newborns require assistance, the majority of the time respiratory support is all that is required. In some instances, however, there are circulatory emergencies that need to be rapidly identified or there may be dire consequences including death in the delivery room. This chapter will review various pathologies that are circulatory emergencies, and discuss how to assess them. We will also review new technologies which may help providers better understand the circulatory status or hemodynamic changes in the delivery room including heart rate, cardiac output, cerebral oxygenation and echocardiography., (© 2019 Elsevier Ltd. All rights reserved.)

Background: Congenital unilateral absence of the pulmonary vein (UCAPV) is a rare entity with characteristic clinical and imaging findings. Despite its congenital nature, the radiographic findings and symptoms of UCAPV may not be recognized at birth and patients may present in childhood or early adulthood with findings that may mimic other diagnoses., Methods: The evolution of imaging findings in UCAPV is presented through two cases, one of which demonstrates the progression of findings over several years. The embryologic basis of this entity is reviewed and the clinical presentation and characteristic imaging findings including radiographs, nuclear scintigraphy, computed tomography, magnetic resonance imaging and cardiac catheterization are demonstrated., Results: Characteristically, normal at birth, radiographs demonstrate the gradual development of a small lung and ipsilateral pulmonary artery over time. In addition to unilateral absence of the pulmonary veins on CT or MRI, a mediastinal "soft tissue mass" reflecting the development of mediastinal collaterals is a common finding and should be recognized as secondary to the absent ipsilateral pulmonary veins rather than as a primary process causing occlusion of the pulmonary veins. Scintigraphy will show absent perfusion to the affected lung., Conclusion: Awareness of the distinctive imaging findings in this unusual condition is critical to avoid misdiagnosis and to prevent the consequences of UCAPV which include pulmonary hypertension and extensive venous collaterals with or without hemoptysis, both of which may prevent definitive repair., (Copyright © 2019. Published by Elsevier Inc.)

Background: This study aimed to evaluate the early and long-term outcomes of graft replacement of Kommerell diverticulum and in situ reconstruction of aberrant subclavian arteries in adults., Methods: Seventeen patients, 6 symptomatic and 11 with right aortic arch, underwent open repair of Kommerell diverticulum from October 1999 to September 2017. Two of these patients underwent open surgical treatment of a ruptured aneurysm. Surgical indications were dilatation of Kommerell aneurysm (n = 9), the presence of a nondissecting aneurysm with Kommerell diverticulum (n = 6), acute type A aortic dissection (n = 1), and complicated acute type B aortic dissection (n = 1). Ten patients underwent total arch replacement and descending aorta replacement through a thoracotomy. Five patients underwent arch replacement and in situ reconstruction through a median sternotomy. All patients except 1 also underwent in situ reconstruction of their aberrant subclavian artery., Results: In-hospital death occurred in 1 patient (5.9%), who underwent total arch replacement for a ruptured aneurysm. Permanent neurologic deficit did not occur in any patient, whereas transient neurologic deficit occurred in 2 patients (11.8%). Five- and 10-year survival rates were 85.2 ± 9.8% and 75.8 ± 12.5%, respectively. There was no symptom recurrence or stenosis of the reconstructed subclavian arteries., Conclusions: Early outcomes of graft replacement of Kommerell diverticulum and in situ aberrant subclavian artery reconstruction were acceptable. As for long-term outcomes, symptomatic improvement and an excellent patency rate among reconstructed aberrant subclavian arteries suggest that in situ surgical repair is an effective treatment option., (Copyright © 2019 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Purpose: Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ( http://www.cardioclassifier.org ), a semiautomated decision-support tool for inherited cardiac conditions (ICCs)., Methods: CardioClassifier integrates data retrieved from multiple sources with user-input case-specific information, through an interactive interface, to support variant interpretation. Combining disease- and gene-specific knowledge with variant observations in large cohorts of cases and controls, we refined 14 computational ACMG criteria and created three ICC-specific rules., Results: We benchmarked CardioClassifier on 57 expertly curated variants and show full retrieval of all computational data, concordantly activating 87.3% of rules. A generic annotation tool identified fewer than half as many clinically actionable variants (64/219 vs. 156/219, Fisher's P = 1.1  ×  10 -18 ), with important false positives, illustrating the critical importance of disease and gene-specific annotations. CardioClassifier identified putatively disease-causing variants in 33.7% of 327 cardiomyopathy cases, comparable with leading ICC laboratories. Through addition of manually curated data, variants found in over 40% of cardiomyopathy cases are fully annotated, without requiring additional user-input data., Conclusion: CardioClassifier is an ICC-specific decision-support tool that integrates expertly curated computational annotations with case-specific data to generate fast, reproducible, and interactive variant pathogenicity reports, according to best practice guidelines.

Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA. They presented concomitant rib anomalies indicating a common developmental defect. Foreknowledge is important for planning thoracotomy or interventional cardiac catheterization in this population., (Copyright © 2017 Elsevier B.V. All rights reserved.)

A 10 week old female intact Staffordshire terrier was presented with a total of five congenital cardio-thoracic vascular anomalies consisting of a patent ductus arteriosus (PDA) with an aneurysmic dilation, pulmonic stenosis, persistent right aortic arch, aberrant left subclavian artery and persistent left cranial vena cava. These abnormalities were identified with a combination of echocardiogram and computed tomography angiography (CTA). The abnormalities were associated with esophageal entrapment, regurgitation, and volume overload of the left heart with left atrial and ventricular enlargement. A 2 cm diameter aneurysmic dilation at the junction of the PDA, right aortic arch and aberrant left subclavian artery presented an unusual surgical challenge and precluded simple circumferential ligation and transection of the structure. A full scale three dimensional model of the heart and vasculature was constructed from the CTA and plasma sterilized. The model was used preoperatively to facilitate surgical planning and enhance intraoperative communication and coordination between the surgical and anesthesia teams. Intraoperatively the model facilitated spatial orientation, atraumatic vascular dissection, instrument sizing and positioning. A thoracoabdominal stapler was used to close the PDA aneurysm prior to transection. At the four-month postoperative follow-up the patient was doing well. This is the first reported application of new imaging and modeling technology to enhance surgical planning when approaching correction of complex cardiovascular anomalies in a dog., (Copyright © 2016 Elsevier B.V. All rights reserved.)

The random finding of a ruptured Kommerell aneurysm (rKA) is exceptional. We report the case of a 74-year-old man who received an incidental diagnosis of a contained rKA involving an aberrant right subclavian artery after a stroke. He underwent successful hybrid repair with the use of thoracic endovascular aortic repair associated with cervical debranching of the left subclavian artery and vascular plug occlusion of both subclavian artery origins. Whereas no early adverse event was reported, the patient experienced a vertebrobasilar insufficiency once he had recovered, requiring an additional right carotid-to-subclavian bypass., (Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

The presence of a left aortic arch with an aberrant right subclavian artery is a well-described anatomic variant that rarely causes symptoms. When symptoms of dysphagia lusoria do occur, however, operative intervention may be necessary. The purpose of this report is to describe our preferred surgical approach to treat dysphagia lusoria secondary to an aberrant right subclavian artery., (Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Aberrant right subclavian artery (ARSA) is a rare congenital anomaly characterized by the origin of the right subclavian artery from the aortic arch distally to the left subclavian artery. We describe the case of a young patient with symptomatic ARSA treated by mediastinoscopy-assisted ligation at its origin and subclavian-carotid transposition., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: Right aortic arch with aberrant left subclavian artery is the most frequent cause of vascular ring. Ligamentum arteriosus division opens the ring but leaves the Kommerell diverticulum in place, with a risk of residual compression, aneurysmal dilation, dissection, or even rupture. A procedure consisting of translocation of the aberrant left subclavian artery to the left carotid artery with removal of the Kommerell diverticulum and division of the ligamentum is currently advocated., Methods: Between September /2009 and August 2011, 12 consecutive patients underwent the foregoing procedure. Clinical findings, surgical procedure, complications, histopathologic findings, and follow-up data were retrospectively analyzed., Results: Mean age at the time of operation was 7.7 years (median, 4.3 years, range, 0.9 to 18.9 years), and mean weight was 26 kg (median, 18 kg; range, 8.4 to 59 kg). All patients had symptoms. Computed tomography scan or magnetic resonance imaging, or both, had confirmed the diagnosis in all patients. Postoperative events, all transient, included chylothorax (1 patient), phrenic palsy (1 patient), pneumonia (1 patient), and the need for prolonged chest drainage (3 patients). Mean follow-up reached 19 months (median, 13 months; range, 12 to 41 months). Mild residual respiratory symptoms were noted in 3 patients. Echo-Doppler analysis showed a patent left subclavian-to-carotid artery anastomosis. Histopathologic analysis of the resected diverticulum (n = 6) showed cystic medial necrosis in four diverticula (focal in one)., Conclusions: Translocation of the aberrant left subclavian artery with diverticulum resection and ligamentum division is an efficient procedure for symptom relief. Profound wall abnormalities such as medial necrosis in at least 50% of the analyzed diverticula encourage us to maintain this strategy, to reduce the risk of aneurysm formation and dissection., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

The aim of this article is to describe the clinical presentation and imaging findings of the right-sided aortic arch, an uncommon anatomical variant. We present a case of associated steal syndrome, to our knowledge the first such case in the literature. Diagnostic imaging of a 49-year-old woman with symptoms of cerebrovascular insufficiency revealed the presence of a right aortic arch, with an aberrant left subclavian artery (lusorian artery). This arrangement placed pressure on the right common carotid artery at the level of its departure with the steal phenomenon dependent on the respiratory phase., (Copyright © 2015 Elsevier Inc. All rights reserved.)

The aim of this study is to report the use of thoracic endovascular aortic repair (TEVAR) in blunt thoracic aortic injuries (BTAIs) presenting with complex anatomies of the aortic arch vessels. Two patients were admitted to our hospital for the management of BTAI. Anomalies were as follow: aberrant right subclavian artery (n = 1) and right-sided aortic arch with 5 vessels anatomy variant (n = 1). TEVAR was accomplished using parallel graft with periscope configuration in the patient with the aberrant right subclavian artery. At 12-month follow-up, computed tomography angiographies confirmed the exclusion of the BTAI, the stability of the endograft, the resolution of the pseudoaneurysm, and the patency of the parallel endograft. Aortic arch vessels variants and anomalies are not rare, and should be recognized and studied precisely to plan the most appropriate operative treatment. TEVAR proved to be effective even in complex anatomies., (Copyright © 2015 Elsevier Inc. All rights reserved.)

A Kommerell diverticulum (KD) may predispose toward aortic aneurysm, dissection, or rupture, although they are primarily asymptomatic. We report a case of an aberrant left subclavian artery arising from a KD in a right-side aortic arch. The lesions were successfully treated by an endovascular approach involving Amplatzer vascular plug embolization of the aberrant left subclavian artery and endovascular repair of the KD., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Aneurysmal evolution of an aberrant right subclavian artery (ARSA) is an operative indication. Endovascular treatment is a minimally invasive procedure, which offers good short-term and midterm results. We describe a case of a 9-cm diameter ARSA aneurysm in a symptomatic man, treated with the triple-barrel technique using a thoracic aortic stent graft combined with surgical and endovascular revascularization of the supra-aortic trunks. Postoperatively, the patient developed a type III endoleak which was covered. The triple-barrel technique has been a proposed treatment approach for complex aortic arch pathologies and remains a less invasive option when compared with open surgery., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Objective: Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in this chromosomal abnormality., Case Report: The first fetus investigated showed Dandy-Walker malformation, cleft lip, and cleft palate) at the second trimester scan. Cardiovascular abnormalities were characterized by a right-sided, U-shaped aortic arch associated with a ventricular septal defect (VSD). Symmetrical intrauterine growth restriction and multicystic dysplastic kidney disease were associated findings. The second fetus showed a dysmorphic face, bilateral cleft lip, hypoplastic corpus callosum, and a Dandy-Walker malformation. Postmortem examination revealed cardiovascular abnormalities such as persistent left superior vena cava draining into the coronary sinus, membranous ventricular septal defect, overriding aorta, pulmonary valve with two cusps and three sinuses, and the origin of the left subclavian artery distal to the junction of ductus arteriosus and aortic arch., Conclusion: Complete trisomy 9 may result in a wide spectrum of congenital abnormalities, and the presented case series contributes further details on the phenotype of this rare aneuploidy., (Copyright © 2014. Published by Elsevier B.V.)

We describe a case of type-2 bronchial artery endoleak after endovascular aortic repair of Kommerell diverticulum (KD) involving right-sided aortic arch and aberrant left subclavian artery (LSA). A 68-year-old woman underwent an endovascular repair of KD with an aberrant LSA in our hospital. Follow-up computed tomography (CT) at 6 months after the procedure showed an endoleak. Digital subtraction angiography revealed a type-2 endoleak from a bronchial artery, but no type-1 or type-2 endoleak from the aberrant left subclavian artery. We performed coil embolization of the KD and the left subclavian artery. The endoleak disappeared in the postoperative CT., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Objective: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Abdominal wall defects, external genitalia anomalies, and structural abnormalities of the urinary tract have been scarcely evaluated and were the focus of our study., Materials and Methods: We prospectively evaluated 41 boys and 38 girls with WBS, with a mean age of 8.8 ± 4.1 (range 3-19 years). All patients were examined for the evaluation of inguinal and umbilical hernias and genital anomalies. All patients were offered a radiological evaluation, including urinary tract ultrasound, voiding cystourethrogram, and dimercaptosuccinic acid renal scintigraphy (DMSA scan)., Results: Of the 41 boys, 30 (73.1%) had abnormalities on physical examination, including bilateral undescended testis in 13 (31.7%), retractile testis in four (9.7%), hypospadias in four (9.7%), and unilateral cryptorchidism in three (7.3%) patients. Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia in four (10.5%), and bilateral inguinal hernia in three (7.8%) patients. Uroradiological abnormalities were found in 41 patients (51.9%). On sonography, six (7.6%) patients had unilateral hydronephrosis, three (3.8%) had a duplicated collecting system, and two (2.5%) had kidney stones. On DMSA, performed in 36 patients, four (11.1%) had unilateral renal scarring and two (5.5%) had bilateral renal scarring. Cystourethrography was obtained from 56 patients, of whom 27 (48.2%) had bladder diverticulum, 18 (32.1%) had bladder wall trabeculation, and three (5.3%) had vesicoureteral reflux. We found no association of urological abnormalities with cardiovascular defects., Conclusions: Patients with WBS have a high prevalence of abdominal wall, external genitalia, and urological abnormalities, emphasizing the importance of proper physical examination and radiological investigation in this population., (Copyright © 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

A right-sided aortic arch is a rare anomaly with an incidence of 0.1% worldwide and is usually associated with a mirror image of all supra-aortic branches or an aberrant left subclavian artery. The latter is often associated with a Kommerell diverticulum, although it can rarely be hypoplastic or atretic and lead to congenital subclavian steal. In most patients, the situation is well-tolerated. In this report, we present a case of subclavian steal syndrome with multiple cerebellar infarcts in a patient with an atypical right-sided aortic arch and an atretic aberrant left subclavian artery arising from a left-sided descending thoracic aorta., (Copyright © 2014 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.)

Background: A case of successful total endovascular repair of a right-sided descending thoracic aorta aneurysm (r-DTAA) with Kommerell diverticulum and aberrant left subclavian artery (ALSA) was reported. Few cases of this very rare pathology were reported, mostly describing a hybrid treatment, with only 2 cases of total endovascular repair performed to date., Methods and Results: Our strategy consisted of endovascular ALSA occlusion, without preventive revascularization, and r-DTAA exclusion by 2 endoprosthesis implanted in a telescopic fashion, first the distal one, to achieve a relative straightening of the arch and support the proximal endoprosthesis, and then the proximal one, close to the right subclavian origin. Completion angiography and 12-month computed tomography scan showed successful exclusion, patency of epiaortic vessels, and absence of endoleak., Conclusion: Endovascular repair can be a safe and effective treatment for aortic disease with challenging anatomy, avoiding the need for a complex open surgery procedure., (Copyright © 2014 Elsevier Inc. All rights reserved.)

We describe a patient in whom severe neoaortic (anatomic pulmonary) valve regurgitation developed late after Damus-Kaye-Stansel anastomosis and Fontan operation. The valve was replaced with a fresh decellularized homograft, which we developed and applied in the normal pulmonary and aortic position in more than 100 patients. During follow-up of more than 2 years, the valve function is excellent, and no infectious or thromboembolic complications were seen. The decellularized homograft seems to be an ideal material in this situation., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Compression of the right pulmonary artery is unusual. We describe a patient with a double-outlet right ventricle, a ventricular septal defect, and pulmonary stenosis in whom the right pulmonary artery was compressed by a right-sided aortic arch. The condition was successfully managed during surgical correction., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

In this article, we report the case of a 68-year-old woman who presented with shortness of breath. Respiratory function tests showed a slightly obstructive physiology. Computed tomography (CT) results revealed an aberrant left subclavian artery and a Kommerell diverticulum arising from a right-sided aortic arch that was compressing the trachea and the surrounding tissues. A median sternotomy was performed with the patient under circulatory arrest with moderate hypothermia, and a transaortic stent graft was inserted to exclude the Kommerell diverticulum. The aberrant left subclavian artery was ligated and an axillo-axillar bypass was constructed. Postoperative CT showed complete exclusion of the Kommerell diverticulum without an endoleak. The patient's breathing difficulty was resolved, and she was discharged uneventfully. This procedure should be considered as an alternative strategy for exclusion of Kommerell diverticulum., (Copyright © 2014 Elsevier Inc. All rights reserved.)

An aberrant right subclavian artery is a known arch variant with surgical intervention reserved for those patients presenting symptomatically, those with aneurysmal degeneration particularly of a Kommerell diverticulum, or those with adjacent aortic pathology. Varied surgical approaches have been described, often involving a supraclavicular approach in conjunction with a thoracotomy, or more recently, hybrid endovascular techniques. In the absence of aneurysmal degeneration or associated aortic pathology, surgical repair can be performed safely through a single supraclavicular incision. We present a case of a patient repaired in this fashion., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Introduction: An aberrant right subclavian artery (ARSA) with or without an associated Kommerell's diverticulum (KOD) is a rare vascular anomaly. Patients with an ARSA may present with a variety of symptoms, including rupture. Options for repair include open, endovascular, and a hybrid approach, with no clear consensus on which is best because of the rarity of the anomaly. We present 2 cases that underwent hybrid repair and a systematic review of the literature., Methods: A systematic review of the literature was performed from 2000-2012 searching for patients with ARSA with or without KOD who underwent endovascular repair. Twenty-four articles were identified, including a few case reports and small case series, for a total of 31 patients. A chart review was also performed on 2 patients at our institution who underwent a hybrid repair for symptomatic ARSA., Results: We report the presenting history, management, and follow-up of 2 symptomatic patients with ARSA with associated KOD. Both patients underwent a hybrid approach for repair, with no reported complications. After postoperative imaging and clinical follow-up, both patients remained in good general condition without signs of vascular complications. Our systematic literature review identified 31 reported cases of patients with ARSA who underwent endovascular repair (10 patients without an associated KOD and 21 patients with a KOD). The patients ranged in age from 21-82 years of age (average: 56 years). Of these patients, 17 (55%) were women. The presenting symptoms varied, and some patients had multiple symptoms noted on presentation, including dysphagia, dyspnea, or asymptomatic patients. In those patients with an associated KOD, the average size of the diverticulum was 3.3 cm (range: 2.3-7 cm). A number of operative strategies were used in the reported cases, depending on the presence of absence of an associated KOD. The average reported duration of hospital stay was 5.4 days (range: 1-60 days). Seven patients had postoperative complications (22%). There were 3 mortalities reported (10%). Only 1 of these could be directly related to the surgical procedure. Reported decrease in aneurysm size was between 25-50%, although this was not reported for most patients. Four of 31 patients (13%) had an endoleak (1 type I endoleak, 2 type II endoleaks, and 1 type IV endoleak). The range of reported follow-up varied between 6 weeks and 92 months, with 9 patients having no follow-up reported., Conclusion: Hybrid approach to repair of an ARSA with associated KOD appears to be feasible, safe, and effective. Despite the poor quality and heterogeneity of the evidence available in the literature for this rare condition, we believe that this could be the preferred treatment option for an ARSA either with or without KOD., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a development disorder of the vasculature characterized by telangiectases and arteriovenous malformations in specific locations. Among monogenic disorders, it is one of the most common, though affected individuals are widely underdiagnosed. The most common features of this disorder, nosebleeds, and telangiectases on the lips, hands, and oral mucosa are often quite subtle. Mutations in at least five genes may result in hereditary hemorrhagic telangiectasia, but mutations in two genes (ENG and ACVRL1/ALK1) account for approximately 85% of cases. Optimal management requires understanding the specific clinical patterns of these vascular malformations, especially their locations and timing during life. Therapeutic modulation of angiogenesis may be an effective therapy., (Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.)

Turner's syndrome (TS) has been documented as the most common cause of aortic dissection in young women. However, little attention from vascular surgery has been paid to these patients. We report the first case of ruptured type B aortic dissection with aberrant right subclavian artery treated successfully with hybrid endovascular and open procedures in a patient with TS. Left carotid to subclavian artery bypass, thoracic endovascular aortic repair, and coil embolization of the aberrant right subclavian and left subclavian arteries were performed in an emergency setting. Literature on epidemiology, causes, and management options of acute aortic dissection in TS patients are reviewed and discussed., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Background: Several epidemiological studies have demonstrated an increased mortality from cardiovascular causes in patients with Klinefelter Syndrome (KS). Little information is available about the nature of the underlying cardiovascular abnormalities. Aim of the study was to investigate exercise performance, left ventricular architecture and function, vascular reactivity, and carotid intima-media thickness in a group of patients with KS., Materials and Methods: Sixty-nine patients with KS and 48 age-matched controls participated in our population-controlled study. Forty-eight Klinefelter subjects were on testosterone treatment at the time of the investigation while 21 were naive and underwent a complete Doppler echocardiographic examination, a cardiopulmonary exercise test as well as a vascular study including measures of carotid intima-media thickness and endothelial function with flow-mediated dilation of the brachial artery. Patients with KS on testosterone therapy (n=48) were also matched against a population of men with treated secondary hypogonadism (n=21)., Results: Patients with KS exhibited a wide array of cardiovascular abnormalities including left ventricular diastolic dysfunction, reduced maximal oxygen consumption (p<0.01), increased intima-media thickness (p<0.05) (-34% and +42% vs. controls, respectively) and a high prevalence of chronotropic incompetence (55% of patients, p<0.01). No significant difference was found between treated and untreated KS in variance with men treated for secondary hypogonadism., Conclusion: Left ventricular diastolic dysfunction, impaired cardiopulmonary performance, chronotropic incompetence, and increased intima-media thickness suggest that cardiovascular abnormalities are a common finding in KS that is not reversed by testosterone replacement therapy and may represent the pathophysiological underpinnings of the increased risk of dying from heart disease., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

We present a case of an abnormal origin of right subclavian artery and right vertebral artery distal to the origin of left subclavian artery in a 2-year-old patient who presented with cyanotic congenital heart disease with single ventricle physiology. The anomalous origin of a right vertebral artery from the proximal descending thoracic aorta is very rare. We have described the cine-angiographic identification of its origin and course, its embryologic development, and its clinical relevance., (Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: The standard operation for vascular ring with right aortic arch and aberrant left subclavian artery is ligamentum arteriosum division. A new surgical approach with primary translocation of the aberrant left subclavian artery to the left carotid artery, removal of the Kommerell diverticulum, and division of the ligamentum through left thoracotomy was recently applied. This study assessed the early outcomes of this approach., Methods: This is a retrospective review of all patients having an operation for right aortic arch with aberrant left subclavian artery and the Kommerell diverticulum between January 2001 and April 2011 at a single institution., Results: Eight patients had a division of the ligamentum and 10 had a primary translocation of an aberrant left subclavian artery with diverticulum removal and ligamentum division. The median operative age and weight for each surgical technique group were, respectively, 2.2 and 1.8 years (p = 0.56) and 10.7 and 12.6 kg (p = 0.30). All patients were symptomatic preoperatively. No deaths occurred. One patient from each group had chylous effusion that was medically treated. The median hospital stay for each group was 4 and 5 days (p = 0.45). During the median follow-up of 47 months, 3 patients in the division of ligamentum group required albuterol aerosol or oral antiinflammatory medication for respiratory symptoms. All patients in the primary translocation group remained asymptomatic and required no medication (p = 0.069)., Conclusions: Primary translocation of aberrant left subclavian artery with removal of the diverticulum and division of the ligamentum had excellent early outcomes and can potentially eliminate residual symptoms and late complications., (Copyright © 2012 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Purpose: We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease., Methods: Ninety patients were randomized 2:1 to enzyme replacement therapy or placebo in a double-blinded protocol. Electrocardiograms and echocardiograms were obtained at baseline and scheduled intervals during the 78-week study period. Baseline cardiovascular abnormalities, and efficacy and safety of enzyme replacement therapy were described. Three pediatric patients were excluded., Results: Eighty-seven patients were included. Median age was 44 years; 51% were men. At baseline, a short PR interval was present in 10%, 7% had decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram (all in mild range). There was no change in cardiovascular status associated with enzyme replacement therapy. No significant safety concerns related to enzyme replacement therapy were identified., Conclusions: Although some patients with late-onset Pompe disease had abnormalities on baseline electrocardiogram or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. Cardiovascular parameters were not impacted by enzyme replacement therapy, and there were no cardiovascular safety concerns. The cardiovascular abnormalities identified may be related to Pompe disease or other comorbid conditions.

Purpose: : Pseudoxanthoma elasticum is an autosomal recessive disorder of elastic tissue in the skin, eyes, and cardiovascular system, caused by mutations in the ABCC6 gene. The purpose of this study was to check variability in expression within one genotype and look for pseudoxanthoma elasticum signs in heterozygotes., Methods: : We examined a relatively large, in comparison with the present literature, group of adult persons homozygous or heterozygous for the c.3775delT mutation in the ABCC6 gene, from a genetically isolated population in the Netherlands. All participants filled out a questionnaire and underwent standardized dermatologic and ophthalmologic examinations with photography of skin and fundus abnormalities. Skin biopsies from affected skin or a predilection site and/or a scar were examined and compared with biopsies from controls., Results: : Skin abnormalities, ophthalmologic signs, and cardiovascular problems varied greatly among the 15 homozygous participants. There was no correlation among severity of skin, eyes, or cardiovascular abnormalities. None of the 44 heterozygous participants had any sign of pseudoxanthoma elasticum on dermatologic, histopathologic, and/or ophthalmologic examination, but 32% had cardiovascular disease., Conclusion: : Individuals homozygous for the c.3775delT mutation can have a highly variable phenotype. We did not find pseudoxanthoma elasticum eye or skin abnormalities in the heterozygous family members.

Isolation of the left subclavian artery is a rare aortic arch anomaly in which the artery originates from the pulmonary artery through a ductus arteriosus rather than the aorta. In neonates it is usually diagnosed incidentally with other aortic or cardiac anomalies and can be associated with chromosomal deletions. We describe an extremely rare presentation whereby subclavian artery isolation was presented with left arm ischemia in a 6-day-old child. There were also a concurrent right aortic arch, ventricular septal defect, persistent left superior vena cava, and both radial and ulnar artery hypoplasia. A family history of aortic arch anomalies with no known chromosomal aberration was also present, whereby all the male family members on the maternal side had undergone aorto-cardiac surgery as neonates. Diagnosis and surgical management are discussed.

Although uncommon and usually incidental findings on imaging or at operation, congenital anomalies of the retroperitoneal venous system, particularly those involving the inferior vena cava and left renal vein, can be troublesome and dangerous during open repair of abdominal aortic aneurysms (AAA). We have provided a retrospective analysis of our single tertiary institution experience with these anomalies during more than 2400 open AAA reconstructions in an effort to determine if preoperative identification of these vessels decreased venous injury and subsequent morbidity as well as offering a thorough review of the relevant embryology, anatomy, and technical approaches for each specified anomaly for the practicing vascular surgeon.

Purpose: The prevalence of most minor cardiovascular manifestations in Marfan syndrome (MFS) is unknown. We assessed the prevalence of minor cardiovascular manifestations in MFS to evaluate their usefulness in a diagnostic setting., Methods: Seventy-seven patients with MFS (aged 4 months to 55 years) underwent echocardiography to assess the presence of mitral valve prolapse and the diameter of the main pulmonary artery. A subset of 29 adult patients with MFS also underwent magnetic resonance imaging evaluation of the diameters of the thoracoabdominal aorta., Results: Mitral valve prolapse was encountered in 66% of patients with MFS, with an equal distribution of classic and nonclassic mitral valve prolapse. The main pulmonary artery diameter was significantly larger in patients with MFS at all ages when compared with controls. In the adult group (> or = 14 years), we were able to provide a cutoff value of 23 mm to define pulmonary artery dilatation. The descending aorta was enlarged, but with substantial overlap with controls, thus precluding the use of a cutoff value., Conclusions: Mitral valve prolapse and main pulmonary artery dilatation are common findings in MFS patients at all ages and are easy to assess with echocardiography. Cutoff values to define dilatation of the descending aorta are hard to define, making them of limited value in the diagnostic evaluation. We recommend echocardiographic evaluation of mitral valve prolapse and main pulmonary artery diameter in patients referred for cardiovascular diagnostic assessment for MFS.

Background: Celiomesenteric trunk is a rare vascular anomaly, which has significant clinical implications. 3-dimensional contrast-enhanced magnetic resonance angiography (3D CE MRA) is a new imaging modality, non-invasive, fast and easy to perform. We describe a patient with a common celiomesenteric trunk demonstrated by 3D CE MRA., Methods: A 45-year-old man was subjected to 3D CE MRA before transarterial chemoembolization (TACE) for hepatocellular carcinoma. The examination was performed on a 1.5T MR imager with a body coil. The contrast medium was gadopentetate dimeglumine. Source images from the hepatic arterial phase acquisition were reconstructed into MRA images. Intra-arterial digital subtraction angiography (DSA) during TACE was carried out 3 days after 3D CE MRA., Results: On 3D CE MRA, a common trunk of the celiac and superior mesenteric artery was clearly depicted. The origin and course of the hepatic, splenic and superior mesenteric arteries were also visualized. These findings were confirmed by intra-arterial DSA., Conclusions: Celiomesenteric trunk can be well delineated by 3D CE MRA. The image is correlated precisely with that from DSA.

The differential diagnosis between juvenile haemangiomas, vascular malformations, pyogenic granulomas and normally proliferative endothelium (granulation tissue) on the basis of histology alone is sometimes difficult. This is important because haemangiomas, are self-limiting and vascular malformations are not. We report our experience of using the immunohistochemical marker GLUT-1 to distinguish haemangiomas from vascular malformations following the initial report by North and Colleagues (1998). We studied a total of 50 specimens from patients with vascular anomalies, and found that GLUT-1 reactivity was positive in 18 out of 19 juvenile haemangiomas, negative in two out of two noninvoluting congenital haemangiomas (NICH) and negative in 29 out of 29 vascular malformations, that included capillary malformations, lymphatic malformations, venous malformations and arteriovenous malformations (95% sensitivity, 100% specificity). Pyogenic granulomas (n = 4) and granulation tissue samples (n = 4) were used as negative controls. Placenta tissue was used as positive control. GLUT-1 accurately distinguishes haemangiomas from vascular malformations, and as a result from this work, we use this technique in routine histopathological differentiation of vascular anomalies.

A newborn male was hospitalized for a heart murmur and severe cyanosis after his birth. Echocardiography showed an abnormal vein crossing below the diaphragm; total anomalous pulmonary venous return (TAPVR, Darling type III) was suspected. A contrast-enhanced 3-dimensional magnetic resonance angiography (MRA) was performed on the 6th day after his birth to assess pulmonary vein stenosis. The MRA was obtained with a 1.5-T superconducting imager (Signa Horizon LX EchoSpeed, with 8.3 operating system software; GE Medical Systems, Milwaukee, WI) and a 4-channel phased array coil for the brain to optimize signal detection with the image sequence from a fast-spoiled gradient-echo (fast-SPGR) with fat suppression. Contrast medium (gadopentetate dimeglumine, 0.1 mmol/kg, Magnevist, Schering, Berlin, Germany), 0.6 mL, was administered at 0.2 mL/sec using a power injector.

Aneurysms of the subclavian artery are rare. Similarly, congenital absence of the internal carotid artery is an extremely rare vascular anomaly. In this report, we discuss the case of a 54 year-old woman with an unusual aneurysm of the right subclavian artery in association with congenital absence of the right internal carotid artery. The aneurysm was successfully surgically repaired. On the basis of the appearance of the aneurysm and the absence of known atherosclerotic risk factors in this patient, it is hypothesized that the aneurysm is, in fact, congenital and related to anomalous development of the embryonic aortic arch branches.

Background/aims: Congenital portosystemic shunts are rare abnormalities of liver vasculature that can cause neurological symptoms, probably secondarily to the effects of the metabolism of ammonia in the brain. Our aim was to investigate the relationship between capillary blood ammonia after oral glutamine challenge and magnetic resonance spectroscopy in three patients with congenital portosystemic shunts., Methods: Neuropsychological tests, oral glutamine challenge and magnetic resonance spectroscopy were performed at baseline and after 6 months of follow-up in three patients with congenital portosystemic shunts. The results were compared to those obtained in a group of six cirrhotic patients with prior episodes of hepatic encephalopathy and healthy controls., Results: Patients with congenital portosystemic shunts exhibited abnormalities of neuropsychological tests, magnetic resonance spectroscopy and a response to the oral glutamine challenge similar to those observed in patients with cirrhosis. The intensity of the rise of brain glutamine was correlated to the area under the curve of ammonia after the oral glutamine challenge (R=0.72)., Conclusions: Neurological manifestations of patients with congenital portosystemic shunts are mediated through similar mechanisms that are involved in the pathogenesis of hepatic encephalopathy. The area under the curve appears to be the better parameter that defines the response to the oral glutamine challenge.