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

Tessier clefts are skeletal and soft tissue abnormalities of a neonate's facial structures. They could be classified as syndromic and non-syndromic clefts, which can be attributed to disruptions in fetal development and genetic mutations, respectively. Reported cases of these clefts typically document the presence of additional abnormalities associated with these clefts. In this systematic review, we analyzed reports of Tessier clefts accompanied by cardiovascular anomalies, as one of the commonly encountered anomalies. We systematically searched PubMed (MEDLINE), Scopus, Web of Science, Science Direct, and Google Scholar. We selected and included case reports, case series, and case reviews on patients with Tessier cleft and cardiovascular anomalies. The critical appraisal of the included studies was performed by two independent investigators using the Consensus-based Clinical Case Reporting Guideline Development (CARE) checklist. Overall, 20 reports (18 case reports and 2 case series) were eligible for inclusion in this review. Tessier clefts 3 and 30 were the most commonly observed. In addition, the most prevalent cardiovascular anomalies consisted of the ventricular septal defect (VSD), double-outlet right ventricle, and atrial septal defect (ASD). Most of the patients received cosmetic and cardiovascular surgeries. However, some were not proper candidates for cardiovascular surgery because of their unstable condition and therefore did not survive.   Conclusion: Regardless of the focus placed on the cleft and subsequent plastic surgery procedures in these cases, it is important to prioritize other abnormalities that may be associated with mortality. A complete cardiovascular system and associated disorders assessment should be performed before facial cosmetic surgeries. What is Known: • Tessier clefts are congenital defects in the soft tissues and bones of the face and like many other congenital defects, they are accompanied by defects in other parts of the body. • In the current literature, the emphasis is on clefts and the cosmetic issues rather than the coinciding defects, particularly cardiovascular anomalies. What is New: • Review the cardiovascular anomalies that are commonly encountered in patients with Tessier clefts., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The aberrant right subclavian artery (i.e., arteria lusoria) arising from the left part of the aortic arch is a rare congenital anomaly. In some patients, esophageal compression may cause symptoms of dysphagia, also called dysphagia lusoria. It can cause serious feeding disorders and poor weight gain in young children. We present the case of an early onset of dysphagia lusoria in a 1-month-old girl whose clinical diagnosis was confirmed by esophagography and magnetic resonance imaging. This kind of vascular anomaly can present a diagnostic challenge and should be considered in diagnosing dysphagia in childhood., (Published by Elsevier Inc.)

A 73-year-old female donated cadaver had an unusual origin of the right subclavian artery (RSA), which is usually known as 'Arteria lusoria' (AL) or "Aberrant Right Subclavian Artery" (ARSA). This artery originated as the fourth and most extreme left branch from the arch of the aorta (AOA), distal to the origin of the left subclavian artery (LSA), and traversed obliquely upwards, towards the right side posterior to the oesophagus, heading for the thoracic inlet. The brachiocephalic trunk (BCT) was absent. The right common carotid (RCCA), left common carotid (LCCA), LSA and ARSA were four branches that originated from the aortic arch and ran from right to left. The course and distribution of these branches were normal. On opening the right atrium, a patent foramen ovale (PFO) was observed in the upper part of the interatrial septum. As far as we know, this is the first cadaveric case report of arteria lusoria with the presence of an atrial septal defect in the form of a PFO. Early diagnosis of aortic arch abnormalities using diagnostic interventions is beneficial for identifying risk factors after invasive procedures., (© 2023. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)

Background: Preparticipation screenings have been conceived for the potential to prevent sudden cardiac death in young athletes by early identification of hidden cardiac diseases. Commonly used protocols include family history collection, physical examination, and resting electrocardiogram. Transthoracic echocardiography has been hypothesized to have a primary role in the preparticipation screening., Aims: The present study aimed to evaluate the additional role of echocardiogram in identifying cardiovascular abnormalities that might be undetected by commonly used preparticipation screening., Methods: We retrospectively reviewed Ferrari Formula Benessere, a corporate wellness program database, and analyzed data recorded from 2017 to 2022 to compare two medical models: a 'standard' preparticipation screening including medical history, physical examination, electrocardiogram and exercise stress testing versus an 'advanced' preparticipation screening comprising history, physical examination, electrocardiogram, exercise stress testing and echocardiography., Results: From an initial sample size of 7500 patients, we included 500 patients (420 male, 33.69 ± 7.9 mean age) enrolled for the first time in the corporate wellness program between 2017 and 2022. Three hundred and thirty-nine (67.8%) patients had no abnormal findings at 'standard' preparticipation screening and, even if they would have not required further evaluation, we performed echocardiography anyway ('advanced' preparticipation screening): 31 (9.1%) showed some abnormal cardiovascular findings at echocardiography, such as patent foramen ovalis, bicuspid aortic valve, aortic root ectasia or mitral valve prolapse., Conclusions: Screening echocardiogram showed an additional value (about 10% more) in detecting patients with cardiovascular abnormalities, otherwise undiagnosed with the 'standard' preparticipation screening protocol., (Copyright © 2023 Italian Federation of Cardiology - I.F.C. All rights reserved.)

Introduction: Ortner syndrome (cardiovocal hoarseness) is characterized by recurrent laryngeal nerve paralysis secondary to a cardiovascular abnormality. Ortner syndrome caused by an aberrant right subclavian artery following a retroesophageal course without aneurysm formation is rare, with only 1 case reported in the literature. Cardiovascular abnormalities could be life-threatening and require early diagnosis and treatment. However, such abnormalities are not often considered by clinical practitioners when patients initially present with hoarseness., Patient Concerns: A 34-year-old woman without any medical history presented to our outpatient department with hoarseness and mild dysphagia for 1 month., Diagnosis: Upon stroboscopic examination, left vocal cord incomplete paralysis was noted. Contrast-enhanced computed tomography revealed an aberrant right subclavian artery arising from the left aortic arch, causing focal compression of the esophagus and, potentially, compression of the left recurrent laryngeal nerve compression. The patient was diagnosed as left recurrent laryngeal nerve paralysis caused by an aberrant right subclavian artery following a retroesophageal course without aneurysm formation., Interventions: The patient was referred to a cardiovascular surgeon for resection and bypass surgery. Both the dysphagia and the hoarseness improved after the surgery., Outcomes: Significant improvement of the left vocal cord paralysis and no vocal cord adduction were seen upon stroboscopic examination after 3 months. During the 5-year follow-up period, the patient remained well, and no signs of recurrence were noted., Conclusion: This case can increase otolaryngologists' awareness of this etiology of hoarseness and consider it in their differential diagnosis., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism". It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.

Dysphagia lusoria is a rare cause of dysphagia due to impingement of the esophagus by an aberrant right subclavian artery. Although most remain asymptomatic, this aberrant vessel can lead to progressive dysphagia in childhood or even later in life as a result of arteriosclerotic burden and attenuation of esophageal compliance that led to esophageal compression. We present a 56-year-old man with a 3-year history of progressively worsening dysphagia to solids and liquids and globus sensation. Videofluoroscopic swallowing study (modified barium esophagram) and barium esophagram showed delayed barium tablet transit in the upper esophagus and focal smooth narrowing of the upper esophagus caused by external compression, respectively. Computed tomography imaging demonstrated external compression of proximal esophagus from an aberrant right subclavian artery with high atherosclerotic burden. In addition, high-resolution impedance manometry (HRiM) revealed a striking high-pressure pulsatile vascular band in the proximal esophagus (108 mmHg) associated with poor bolus transit, demonstrating the utility of HRiM in strengthening the diagnoses of true dysphagia lusoria., (© 2021 John Wiley & Sons Ltd.)

Rationale: Anatomical variations in aortic arch (AA) branching are not unusual. Generally, these variations are asymptomatic and are diagnosed incidentally. Here, we report a rare case of a middle-aged female patient with an aberrant right subclavian artery (ARSA) associated with anomalous origins of the bilateral vertebral arteries (VAs)., Patient Concerns: The patient treated for urolithiasis complained of repeated dizziness for several years., Diagnoses: Echocardiography and computed tomography angiography (CTA) confirmed arterial variations. Moreover, mild stenosis was found in the left common carotid artery (LCCA), which was considered to be the cause of dizziness., Interventions: Congenital anomalous arteries were not necessary to intervene urgently, but aspirin and atorvastatin were administered to prevent potential thrombosis attributed to vascular stenosis after completing the operation for urolithiasis., Outcomes: Whether the symptoms will be alleviated or not should be continuously followed up, and the patient may accept interventional therapy in the future if necessary., Lessons: Here, we report the rare variation of AA branches and highlight the importance of preoperative vascular assessment in surgical or interventional procedures for the affected body regions., Competing Interests: The authors have no conflicts of interests to disclose., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Objectives: Agenesis of the ductus venosus (ADV) has been associated with additional anomalies in up to 83% of cases. We sought to investigate characteristics, co-morbidities and outcomes of ADV in the current era. We hypothesized that rates of cardiac and non-cardiac diagnoses and survival would be higher, due to advances in genetic testing, prenatal diagnosis and surveillance., Methods: A retrospective series of cases diagnosed at our institution from 2007 to 2018 were identified by searching our database. Cardiac and obstetric charts were reviewed for cardiac and extra-cardiac anomalies, genetic results and outcomes., Results: Fourteen cases were diagnosed at a mean gestational age of 23.9 weeks (range 13-33). All had associated genetic, cardiac or extra-cardiac anomalies. Eight (57%) had cardiac anomalies and one other developed cardiomyopathy by 6 months. Extra-cardiac anomalies were present in 93% (13/14) and genetic diagnoses made in 75% (6/8) of those tested. Cardiac output Z-scores were >2 in 60% (6/10) prior to delivery. Two had hydrops, there was one intra-uterine death, 13 live-births and two neonatal deaths., Conclusion: Our cohort had more associated diagnoses and a lower mortality than previously reported. In our experience, high output occurs frequently, however with a relatively low risk of hydrops and intrauterine death., (© 2020 John Wiley & Sons Ltd.)

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.)

Background: Persistent right umbilical vein (PRUV) is characterized by atresia of the left umbilical vein while the right umbilical vein remains open. Given the limited sample size of most studies, the incidence of PRUV and the status of concomitant anomalies may not be fully reflected. Thus, we studied the incidence of fetal PRUV and its concomitant anomalies on a larger scale using our hospital database. This study hoped to address the following questions: Does PRUV increase the risk of fetal anomalies? If the PRUV fetus also has a single umbilical artery (SUA), does the risk of fetal anomaly increase further? What is the positive predictive value of PRUV for fetal anomalies?, Methods: This retrospective study analyzed 756 cases of fetal PRUV at our hospital from January 2007 to April 2017. Prenatal ultrasound and color Doppler images were assessed. All PRUV fetuses underwent echocardiography and detailed ultrasound examinations of other systems. Newborn status was obtained via the database or by telephone follow-up., Results: A total of 435,428 pregnant women underwent prenatal ultrasonography at 16-40 weeks, the incidence of fetal PRUV was 0.17%, and 102 fetuses (13.5%) developed other anomalies. Two complicated cases had trisomy 18. PRUV was associated with a higher incidence of fetal anomalies. When fetal anomalies were classified by body systems, PRUV was associated with a higher incidence of cardiovascular, nervous, urinary, skeletal, digestive, and respiratory system anomalies. The positive predictive values of a PRUV for any fetal anomalies and cardiovascular anomalies were 13.5% (95%CI, 11.2-16.2%) and 5.4% (95%CI, 4.0-7.3%), respectively. SUA further increases the risk of PRUV fetuses with other anomalies and cardiovascular anomalies., Conclusions: Detailed prenatal ultrasonography and echocardiography should be performed in fetuses with PRUV to rule out anomalies in other systems. When the PRUV is combined with SUA, echocardiography is particularly important. Fetuses with complicated PRUV should undergo chromosomal examination. Although isolated fetal PRUV prognosis is good, complicated PRUV prognosis depends on the type and severity of the concomitant anomalies.

Objective: To compare the prevalence of intermittent absent or reversed end-diastolic flow (iAREDF) in the umbilical artery in appropriately grown monochorionic diamniotic (MCDA) pregnancies with and without proximate cord insertion (PCI), and to evaluate pregnancy outcome., Methods: The prevalence of iAREDF in MCDA pregnancies with PCI (n = 11) was compared with a control group without PCI (n = 33). PCI was defined as a distance between the cord insertions below the fifth percentile. Placental sharing, number, and diameter of anastomoses were assessed by placental examination. Pregnancy outcome was evaluated., Results: iAREDF was present in 7/11 PCI pregnancies, compared with 0/33 in the control group (P ≤ .01). All PCI pregnancies and 94% of controls had arterioarterial (AA)-anastomoses (P = .56), the diameter was larger in the PCI group, respectively 3.3 vs 2.1 mm (P = .03). Three cases with iAREDF had adverse outcome, two resulted in fetal death of which one with brain damage in the co-twin, another underwent early premature emergency section for fetal distress., Conclusion: iAREDF occurs in a large proportion of MCDA pregnancies with PCI and is related to the diameter of the AA anastomosis. We hypothesize that iAREDF in appropriately grown MCDA twin pregnancies reflects an unstable hemodynamic balance with an increased risk for fetal deterioration. Whether outcome in these pregnancies can be improved by altered management requires further investigation., (© 2020 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Aberrant subclavian artery (arteria lusoria) is the most common congenital malformation of the aortic arch in the general population. As patients are more often asymptomatic, indications for correcting this abnormality, even in those having dysphagia, are very vague. While presenting a case of a 10-year-old girl who suffered from dysphagia lusoria for 2 years before being cured by a simple surgical translocation, we review the literature and debate various aspects of its management from diagnosis to surgery and cosmesis., (© The Author(s) 2020. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Although devastating complications during simple coarctation of aorta repair now occur less frequently, some unique cases still require extra caution. Here, we report a case of coarctation of the aorta with a rare anomaly in the circle of Willis and an aberrant right subclavian artery, which required a thorough surgical strategy that prevented cerebral malperfusion., (© The Author(s) 2020. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Dysphagia lusoria is rare embryologic defect of the aortic arch vasculature characterized by an aberrant retro-esophageal course of the right subclavian artery (RSA), comprising a vascular sling. This may manifest clinically with symptoms of dysphagia or reflux. Given the rarity of this pathology, there remains uncertainty regarding the most effective treatment algorithm. Vascular decompression procedure surgery is often used to rectify the aberrant vascular morphology. However, a low percentage of aberrant arteries result in trachea-esophageal symptoms. As such, we suggest (1) one must exclude co-morbid esophageal motility disorders in patients with dysphagia; and (2) aberrant RSA may be a cause of dysphagia, so-called dysphagia lusoria, but represents an unlikely mechanism, since this morphological arrangement typically does not result in a highly constrictive, circumferential vascular ring. It follows, therefore, that directly addressing the esophageal motility issue should take precedence over complex and potentially noncurative vascular procedures directed to the aberrant RSA. However, the presence of marked aneursymal dilation of the aberrant RSA, and/or the presence of a bicarotid (socalled bovine) trunk, would favor vascular repair in the clinical decision-making due to the elevated risk of rupture and more severe esophageal compression in these specific situations.

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.)

Background: Connection between the duplication of the middle cerebral artery (DMCA) and the presence of multiple aneurysms has been described in a small number of cases., Case Presentation: The presence of a rare type of DMCA associated with cerebral aneurysms was diagnosed in 56 year old woman after a rupture of an aneurysm on the dorsal segment of the DMCA. .. The presence of equal diameters of branches of the DMCA and anterior cerebral artery (ACA) could be recorded as trifurcation of the carotid internal artery (ICA). However, due to the anastomosis of the DMCA branches in the area of the M2 segment, the recorded anatomical change represented a segmental duplication of MCA. Three aneurysms that were directly related to the segmental DMCA were diagnosed., Conclusions: Anatomical variation by type of segmental DMCA is a rare subtype of DMCA. The presence of multiple aneurysms associated with this type of anatomical variation in MCA indicates their high hemodynamic instability.

Intrathoracic left subclavian to common carotid artery translocation is advocated for patients undergoing vascular ring division in the setting of an enlarged Kommerell's diverticulum and aberrant left subclavian artery. This approach poses technical challenges in larger patients and patients with unfavorable body habitus. Supraclavicular left subclavian artery to common carotid translocation greatly simplifies this procedure in select patients.

We investigated the impact of hypertension on circulatory responses to exercise and the role of the exercise pressor reflex in determining the cardiovascular abnormalities characterizing patients with hypertension. After a 7-day drug washout, 8 hypertensive (mean arterial pressure [MAP] 130±4 mm Hg; 65±3 years) and 8 normotensive (MAP 117±2 mm Hg; 65±2 years) individuals performed single-leg knee-extensor exercise (7 W, 15 W, 50%, 80%-W peak ) under control conditions and with lumbar intrathecal fentanyl impairing feedback from µ-opioid receptor-sensitive leg muscle afferents. Femoral artery blood flow (Q L ), MAP (femoral artery), leg vascular conductance, and changes in cardiac output were continuously measured. While the increase in MAP from rest to control exercise was significantly greater in hypertension compared with normotension, the exercise-induced increase in cardiac output was comparable between groups, and Q L and leg vascular conductance responses were ≈18% and ≈32% lower in the hypertensive patients ( P <0.05). The blockade-induced decreases in MAP were significantly larger during exercise in hypertensive (≈11 mm Hg) compared with normotensive (≈6 mm Hg). Afferent blockade attenuated the central hemodynamic response to exercise similarly in both groups resulting in a ≈15% lower cardiac output at each workload. With no effect in normotensive, afferent blockade significantly raised the peripheral hemodynamic response to exercise in hypertensive, resulting in ≈14% and ≈23% higher Q L and leg vascular conductance during exercise. Finally, Q L and MAP during fentanyl-exercise in hypertensive were comparable to that of normotensive under control conditions ( P >0.2). These findings suggest that exercise pressor reflex abnormalities largely account for the exaggerated MAP response and the impaired peripheral hemodynamics during exercise in hypertension.

Purpose of Review: To address the incidental versus pathogenic nature of dysphagia lusoria and to provide a review of the cause, clinical presentation, diagnosis, and treatment of this condition with respect to recent literature., Recent Findings: Case reports comprise the majority of recent literature concerning dysphagia lusoria. Many patients with an aberrant right subclavian artery (ARSA) have additional coexisting vascular anomalies. While most individuals present around age 50, some present as children and neonates. Of note, this population may present with dysphagia as opposed to respiratory findings alone, as previously described. In the diagnostic workup, most patients receive a battery of radiologic tests, which may not be necessary. Significantly, dietary modifications and medical management alone may resolve symptoms. Nonetheless, a wide range of operative techniques are available for the treatment of dysphagia lusoria., Summary: Clinicians should have a higher suspicion for dysphagia lusoria in patients with known vascular, heart, or chromosomal anomalies. Diagnosis should begin with a barium esophagram followed by a computed tomography angiogram or magnetic resonance angiogram. Avoid unnecessary studies. In many cases, an ARSA may be an incidental finding with comorbid gastroesophageal reflux disease or another medical condition responsible for the symptoms. Medical versus surgical management should be considered on a case-by-case basis.

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: An aberrant right subclavian artery which arises from the proximal descending aorta may result in aortic dissection. The dissection may occur at either the site of the primary intimal tear or from an aortic branch. These conditions may lead to blood flow limitation and possible aneurysmal degeneration in the future., Case Presentation: We described the clinical presentation and management of a 54-year old patient diagnosed with a rare case of an aberrant right subclavian artery with Stanford Type B aortic dissection. A hybrid surgical approach was successfully performed and the patient had an uneventful recovery., Conclusion: Even though aortic dissection is often an incidental finding, this case highlighted that in rare situations, it can be associated with an aberrant right subclavian artery. It is important to disseminate this association as it has profound diagnostic and therapeutic implications in safeguarding the clinical outcomes of patients with such condition.

Objectives: Indications and techniques of repair for symptomatic or aneurysmal aberrant subclavian arteries (ASA) are controversial. This study analyses presentation, treatment and outcome of patients with symptomatic and/or aneurysmal ASA., Methods: Retrospective analysis of consecutive adult patients undergoing symptomatic and/or aneurysmal ASA repair between January 2000 and June 2016., Results: Of 12 patients (4 females) with a median age of 66 years (range 24-75), 10 had right ASA and 2 had left ASA originating from a right aortic arch. Six patients (50%) had Kommerell's diverticulum and 6 patients had aneurysmal dilatation of the ASA itself. Six patients presented with symptoms (dysphagia n = 4, chest pain n = 1, recurrent aspiration n = 1). Nine patients (75%) were treated by open ASA resection/ligation with or without aortic repair. Three patients (25%) underwent hybrid repair using thoracic endovascular aortic repair to exclude the aberrant artery. ASA revascularization was achieved by subclavian-carotid transposition (n = 7), carotid-subclavian bypass (n = 1), aorto-subclavian bypass (n = 3) or reimplantation after aortic graft replacement (n = 1). Thirty-day mortality was 8% (n = 1). The median follow-up duration was 44 months (range 24-151). Symptoms were relieved in 4 and persisted partially in 1, while symptom relief remained unknown in 1 patient who died during follow-up. Imaging after a median of 34 months (range 2-134) after the operation showed patent ASA revascularization in all patients and no endoleaks in the hybrid group., Conclusions: Surgical and hybrid repair allows satisfying results in patients with symptomatic and/or aneurysmal ASA. The optimal procedure has to be defined on an individual patient basis. Further studies, preferably with a multicentre approach, are required to answer more specific questions on the management of these patients and especially to assess long-term results following hybrid repair., (© The Author(s) 2019. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Kosaki overgrowth syndrome is a recently described syndrome characterized by distinctive facial features, brain white matter lesions, and developmental delay. Germline activating heterozygous PDGFRB mutations have been reported in this condition. Systemic connective tissue-type findings have been described in some individuals. We describe a 19-year-old Caucasian female with a history of hydrocephalus, Dandy-Walker malformation, cervical spine arachnoid cyst, progressive scoliosis, and overgrowth. Her physical exam included distinctive craniofacial dysmorphism, as well as soft and hyperextensible skin. Cardiovascular imaging during adolescence revealed saccular aneurysms in both coronary artery systems and subtle tortuosity of the cervical vertebral arteries. Exome sequencing trio analysis identified a de novo previously reported pathogenic variant in PDGFRB, c.1696T>C (p.[Trp566Arg]). Further functional studies included platelet-derived growth factor cellular metabolic pathway activity that confirmed the variant causes a constitutive activation of the PI3K-AKT pathway. This is the first report to characterize the activating nature of this PDGFRB variant. We also highlight the connective tissue findings seen in Kosaki overgrowth syndrome and recommend baseline echocardiographic evaluation in all individuals with this condition with particular emphasis on coronary arteries., (© 2019 Wiley Periodicals, Inc.)

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.)

Wearable biomedical technology has gained much support lately as devices have become more affordable to the general public and they can easily interact with mobile phones and other platforms. The feasibility and accuracy of the data generated by these devices so as to replace the standard medical methods in use today is still under scrutiny. In this paper, we present an ear-worn device to measure cardiovascular and sweat parameters during physical exercise. ECG bipolar recordings capture the electric potential around both ears, whereas sweat rate is estimated by the impedance method over one segment of tissue closer to the left ear, complemented by the measurement of the lactate and pH levels using amperiometric and potentiometric sensors, respectively. Together with head acceleration, the acquired data is sent to a mobile phone via BLE, enabling extended periods of signal recording. Results obtained by the device have shown a SNR level of 18 dB for the ECG signal recorded around the ears, a THD value of -20.46 dB for the excitation signal involved in impedance measurements, sweat conductivity of 0.08 S/m at 1 kHz and sensitivities of 50 mV/pH and 0.8 μA/mM for the pH and lactate acquisition channels, respectively. Testing of the device was performed in human subjects during indoors cycling with characteristic level changes.

Pericardial, myocardial, and great vessel diseases are relatively rare in horses. The clinical signs are often nonspecific and vague, or related to the underlying cause. Physical examination usually reveals tachycardia, fever, venous distension or jugular pulsation, a weak or bounding arterial pulse, ventral edema, and abnormal cardiac auscultation such as arrhythmia, murmur, or muffled heart sounds. The prognosis depends on the underlying cause and the disease progression, and ranges from full recovery to poor prognosis for survival. This article focuses on the etiology, diagnosis, prognosis, and treatment of pericarditis, pericardial mass lesions, myocarditis, cardiomyopathy, and great vessel aneurysm or rupture., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: The recommended cardiac workup of patients with spontaneous intracerebral hemorrhage (ICH) includes an electrocardiogram (ECG) and cardiac troponin. However, abnormalities in other cardiovascular domains may occur. We reviewed the literature to examine the spectrum of observed cardiovascular abnormalities in patients with ICH., Methods: A narrative review of cardiovascular abnormalities in ECG, cardiac biomarkers, echocardiogram, and hemodynamic domains was conducted on patients with ICH., Results: We searched PubMed for articles using MeSH Terms "heart," "cardiac," hypertension," "hypotension," "blood pressure," "electro," "echocardio," "troponin," "beta natriuretic peptide," "adverse events," "arrhythmi," "donor," "ICH," "intracerebral hemorrhage." Using Covidence software, 670 articles were screened for title and abstracts, 482 articles for full-text review, and 310 extracted. A total of 161 articles met inclusion and exclusion criteria, and, included in the manuscript. Cardiovascular abnormalities reported after ICH include electrocardiographic abnormalities (56% to 81%) in form of prolonged QT interval (19% to 67%), and ST-T changes (19% to 41%), elevation in cardiac troponin (>0.04 ng/mL), and beta-natriuretic peptide (BNP) (>156.6 pg/mL, up to 78%), echocardiographic abnormalities in form of regional wall motion abnormalities (14%) and reduced ejection fraction. Location and volume of ICH affect the prevalence of cardiovascular abnormalities. Prolonged QT interval, elevated troponin-I, and BNP associated with increased in-hospital mortality after ICH. Blood pressure control after ICH aims to preserve cerebral perfusion pressure and maintain systolic blood pressure between 140 and 179 mm Hg, and avoid intensive blood pressure reduction (110 to 140 mm Hg). The recipients of ICH donor hearts especially those with reduced ejection fraction experience increased early mortality and graft rejection., Conclusions: Various cardiovascular abnormalities are common after spontaneous ICH. The workup of patients with spontaneous ICH should involve 12-lead ECG, cardiac troponin-I, as well as BNP, and echocardiogram to evaluate for heart failure. Blood pressure control with preservation of cerebral perfusion pressure is a cornerstone of hemodynamic management after ICH. The perioperative implications of hemodynamic perturbations after ICH warrant urgent further examination.

Objective: To evaluate the feasibility of three-dimensional (3D) printing models of coronary artery anomalies based on cardiac CT data and explore their potential for clinical applications., Design: Cardiac CT datasets of patients with various coronary artery anomalies (n=8) were retrospectively reviewed and processed, reconstructing detailed 3D models to be printed in-house with a desktop 3D printer (Form 2, Formlabs) using white resin., Setting: A University Hospital (division of cardiology) in the UK., Participants: The CT scans, first and then 3D-printed models were presented to groups of clinicians (n=8) and cardiovascular researchers (n=9)., Intervention: Participants were asked to assess different features of the 3D models and to rate the models' overall potential usefulness., Outcome Measures: Models were rated according to clarity of anatomical detail, insight into the coronary abnormality, overall perceived usefulness and comparison to CT scans. Assessment of model characteristics used Likert-type questions (5-point scale from 'strongly disagree' to 'strongly agree') or a 10-point rating (from 0, lowest, to 10, highest). The questionnaire included a feedback form summarising overall usefulness. Participants' imaging experience (in a number of years) was also recorded., Results: All models were reconstructed and printed successfully, with accurate details showing coronary anatomy (eg, anomalous coronary artery, coronary roofing or coronary aneurysm in a patient with Kawasaki syndrome). All clinicians and researchers provided feedback, with both groups finding the models helpful in displaying coronary artery anatomy and abnormalities, and complementary to viewing 3D CT scans. The clinicians' group, who had substantially more imaging expertise, provided more enthusiastic ratings in terms of models' clarity, usefulness and future use on average., Conclusions: 3D-printed heart models can be feasibly used to recreate coronary artery anatomy and enhance understanding of coronary abnormalities. Future studies can evaluate their cost-effectiveness, as well as potentially explore other printing techniques and materials., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2018. Re-use permitted under CC BY. Published by BMJ.)

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.)

PurposeThe aim of the study was to perform CT angiography-based evaluation of aberrant right subclavian artery prevalence, anatomy, and its influence on clinical symptoms., Methods: A total of 6833 patients who underwent 64-slice or dual-source CT angiography and those who revealed aberrant right subclavian artery underwent evaluation of its anatomy and were interviewed for the presence of clinical symptoms., Results: Aberrant right subclavian artery was found in 32 (0.47%) patients consisting of 13 males and 19 females, with mean age of 60.8±13.4 years. Among the interviewed 30 (94%) patients, oesophageal compression was observed in 14 cases (47%) and tracheal compression in three cases (10%). None of the patients underwent surgery related to aberrant right subclavian artery. Dysphagia was the most common clinical symptom in nine cases (30%), and in those patients the median distance between aberrant right subclavian artery and trachea was lower (4 mm) than in individuals without dysphagia (7.5 mm) (p = 0.009). The median lumen area of the aberrant right subclavian artery at the level of oesophagus was higher in patients with dysphagia (208 mm2) compared with individuals without dysphagia (108 mm2) (p = 0.01)., Conclusions: Aberrant right subclavian artery is a rare occurring abnormality in CT angiography. In the evaluated adult population, the most common symptom was dysphagia, which occurred in patients with decreased distance between aberrant right subclavian artery and trachea and increased lumen area of the aberrant artery at the level of compressed oesophagus.

Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. The aim of the study was to compare cardiovascular manifestation of MFS between children and adults. The study population consisted of 236 patients (144 children and 92 adults), who were referred to our department with suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 101 (44 children and 57 adults) out of the 236 patients. The other patients were diagnosed with Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, ectopia lentis syndrome, marfanoid habitus and other rare syndromes. The most common cardiovascular abnormality was aortic root dilatation (81.19% of patients). It was found that both adults and children had similar high rates of aortic root dilatation. Similarly, there was no significant difference with regard to the prevalence of aortic valve regurgitation and mitral valve prolapse among children and adults. These findings equivocally indicate that the aforementioned abnormalities develop in early childhood, therefore, they may be used in the early identification of patients with MFS. Other assessed abnormalities, which included mitral valve regurgitation, pulmonary artery dilation, aneurysms of aortic arch, descending thoracic aorta and abdominal aorta were found mostly in adults, and thus, are of less use in the early detection of MFS.

Objective: To study the trend in the incidence and nosological structure of congenital malformations (CMFs) in the fetuses and babies of the Kyzylorda Region (Aral Sea Region) of the Republic of Kazakhstan in the period 2016-2018., Material and Methods: Over 2016-2018, the investigators analyzed 550 childbirth histories, the protocol (records) of autopsy in fetuses and babies who had died at the maternity hospitals and children's hospitals of the Kyzylorda Region (Aral Sea Region, Kazakhstan)., Results: Throughout the follow-up period, the structure of CMFs in the Kyzylorda Region, the Republic of Kazakhstan, was found to have 3 major systemic defects: multiple defects; cardiovascular defects, and central nervous system defects, which can be considered as an indicator for environmental problems in the region. There was a preponderance of hydrocephalus and anencephaly among the CMF of the central nervous system and that of interventricular and interatrial septal defects and combined defects among the cardiovascular CMFs. In the considered period of time, malformations of the urinary system, gastrointestinal tract, and lungs were often observed as part of multiple malformations. In the considered period of time, defects of the urinary system, gastrointestinal tract, and lungs were often observed as part of multiple malformations. The postmortem findings indicated that the conformity of clinical and postmortem CMF diagnoses in the Kyzylorda Region were more than 77%.

Objective: Determine whether higher targeted oxygen levels are associated with reduced incidence of pulmonary hypertension (PH) and elevated pulmonary vascular resistance (PVR) in extremely premature infants., Study Design: Retrospective chart review of 252 extremely preterm infants (<29 weeks), who underwent echocardiogram prior to discharge. PH rates were compared during periods (June 2012-May 2015 and June 2015-April 2016) when lower (88-92%) or higher (90-95%) oxygen saturation targets were used. PH was determined on echocardiography. The ratio of pulmonary artery acceleration time to right ventricular ejection time was computed, with values <0.31 indicative of elevated PVR. Survival analysis compared the effects of oxygen saturation group on development/resolution of PH and elevated PVR., Results: The higher saturation group had significantly lower risk of developing PH (hazard ratio (HR) = 0.50, 95%CI 0.26-0.95; P = 0.03) or elevated PVR (HR = 0.55, 95%CI 0.38-0.81; P = 0.002), compared to the lower oxygen saturation group. Median time to PH development was significantly shorter in the lower saturation group than in the higher saturation group (5 days vs 12 days; P = 0.02), as was time to development of elevated PVR (4 days vs 6 days; P < 0.001). Duration of PH (P = 0.12) and elevated PVR (P = 0.86) did not differ significantly between groups. Cumulative incidence of PH (P = 0.04) and elevated PVR (P = 0.01) at 36 weeks post-menstrual age was significantly lower in the high saturation group compared to the lower saturation group., Conclusion: Higher targeted oxygen saturation was associated with reduced risk of PH or elevated PVR in extremely preterm infants compared to lower oxygen saturation target., (© 2018 Wiley Periodicals, Inc.)