Incomplete vascular ring of the aortic arch presenting with dysphagia in an adult: case report.

Anomalies of the arterial branches of the arch of the aorta are rare, with the aberrant right subclavian artery being the most common of this anomaly. Majority of the anomalies are asymptomatic and often discovered as incidental findings. In the great majority of the symptomatic cases, the presentation may be either with breathlessness or dysphagia or both. This is in addition to the nature of the intrinsic arterial disease of the aberrant vessel, especially in adult patients; and unless borne in mind, the diagnosis is often missed leading to delays and wrong treatment. In this report we present a case of dysphagia in an adult male Nigerian initially diagnosed as œsophageal stricture from herbal potion ingestion but review of his imaging investigations gave a final diagnosis of dysphagia lusoria from an aberrant right subclavian artery. The difficulty in making a diagnosis and the need for a multidisciplinary review of the imaging investigations are highlighted. The patient was successfully treated by a combined trans-thoracic and cervical approach with division and re-implantation of the aberrant vessel unto the right common carotid artery. He has remained symptom-free for 2 years after surgery. Although the great majority of these anomalies are often asymptomatic, it is important they are borne in mind both in imaging investigations as well as in procedures involving structures in the upper visceral mediastinum. Various surgical approaches have been documented in the management of symptomatic ones; it is however recommended that options that ensure revascularization of the affected limb be selected.

Arteria Lusoria as a Cause of Dysphagia in an Infant.

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.

Arteria lusoria with patent foramen ovale: clinical and embryological significance with literature review.

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.

Echocardiography in the preparticipation screening: an old topic revisited.

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 ±â€Š7.9 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.

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Hajdu-Cheney syndrome is an ultra-rare autosomal dominant disorder caused by a heterozygous variant in NOTCH2 gene. Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems. Here, we present the first reported case of an African child with a variant in NOTCH2 gene and features of Hajdu-Cheney syndrome in whom we detected a congenital heart defect that has not been previously reported in association with the syndrome. To appropriately characterize this disease and document correct proportion of cardiovascular malformation associations, echocardiography is recommended for all cases of Hajdu Cheney syndrome.

Ortner syndrome caused by aberrant right subclavian artery: A case report.

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.

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.

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: utility of high-resolution impedance manometry to identify true disease.

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.

Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.

Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as FAM111A-related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. We report a novel FAM111A mutation in a fetus with poorly ossified skull, proportionate long extremities with thin diaphysis, and hypoplastic spleen consistent with FAM111A-related syndromes. Trio whole exome sequencing identified a p.Y562S de novo missense variant in the FAM111A gene. The variant shows significant similarity to other reported pathogenic mutations fitting proposed pathophysiologic mechanism which provide sufficient evidence for classification as likely pathogenic. Our report contributed a novel variant to the handful of OCS and KCS2 cases reported with pathogenic variants.

Coexistence of an aberrant right subclavian artery and anomalous origins of bilateral vertebral arteries: A case report.

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.

Prenatal features, associated co-morbidities and clinical course of agenesis of the ductus venosus in the current era.

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.

Ultrasonic detection of fetal persistent right umbilical vein and incidence and significance of concomitant anomalies.

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.

LACHT syndrome (Mardini-Nyhan association) with tracheal stenosis in a Thai newborn.

LACHT syndrome, or Mardini-Nyhan association, is an ultra-rare disorder, diagnosed solely by the clinical characteristics of lung agenesis, complex cardiac defects, and thumb anomalies. Only 12 patients have been reported worldwide, and here, we report a new clinical diagnosis of LACHT syndrome. Our patient was a male full-term newborn with left lung agenesis, congenital heart defects including ventricular septal defect, right-sided aortic arch, with aberrant left subclavian artery and Kommerell diverticulum, as well as left preaxial polydactyly and hemivertebra. Our patient appears to be the second LACHT syndrome case to also suffer from tracheal stenosis, which has only been reported once before in conjunction with this syndrome. In light of this, tracheal stenosis may be a phenotype for LACHT syndrome.

Two-stage repair of interrupted aortic arch type A: Arch reconstruction and pulmonary artery banding without CPB through a left thoracotomy.

Treatment of interrupted aortic arch (IAA) is inherently challenging. Single-stage complete repair has become the norm in contemporary practice.  While palliation, in general, has fallen out of favor, a 2-stage approach to correcting selected type A IAA appears to be a productive, safe, and effective option, considering the neonatal age at repair. In this video tutorial, we demonstrate our preferred technique for neonatal aortic arch repair and pulmonary artery banding, which constitute the first stage of the 2-stage repair. Key steps of stage 1 repair are demonstrated and the arguments supporting our approach are presented. This approach significantly reduces morbidity and results in a well-palliated ventricular septal defect (VSD).  We also briefly discuss stage 2 of the repair, which is a straightforward VSD closure and pulmonary artery debanding procedure when the child is older and more resilient.

Dysphagia and an aberrant subclavian artery: more than just a coincidence.

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.

Intermittent absent and reversed umbilical artery flows in appropriately grown monochorionic diamniotic twins in relation to proximate cord insertion: A harmful combination?

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.

Association of aberrant subclavian arteries with aortic pathology and proposed classification system.

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.