Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.

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.

Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.

Pathogenic AGO1 variants have been associated with neurodevelopmental disorders, including autism spectrum disorder, developmental delay, intellectual disability, and dysmorphic facial appearance. In mammalian models, defects in microRNA (miRNA) biogenesis are associated with congenital heart disease and dilated cardiomyopathy. We describe the case of a patient with partial anomalous pulmonary venous return, hypoplastic left lung, bilateral pulmonary sequestration, and dilated myocardiopathy. We identified a de novo pathogenic variant of AGO1, which encodes an Argonaute protein forming a gene-silencing complex with microRNAs. The patient was diagnosed with dilated cardiomyopathy with no apparent cause at 3 years of age. She was started on enalapril and carvedilol, and her heart failure was well controlled. We expanded the AGO1-associated phenotype to include complex congenital cardiovascular anomaly and dilated cardiomyopathy in humans.

Stridor as a Harbinger of Congenital Cardiovascular Anomaly.

BACKGROUND: There is an intimate spatial relationship between the cardiovascular and airway structures. Central airway compression related to congenital cardiovascular anomalies should be considered in neonates, infants, and young children presenting with stridor. METHODS: From July 31, 1990 to December 31, 2018, 24 pediatric patients, including 18 males and 6 females, aged 1 day to 11.3 years old, presenting with stridor and/or lip cyanosis were enrolled in this study. At presentation, none of the patients had a known history of congenital heart disease. Patients with congenital bronchopulmonary vascular/foregut malformations, congenital pulmonary venolobar syndrome, congenital pulmonary malinosculations, Eisenmenger syndrome, secondary pulmonary hypertension, and idiopathic pulmonary arterial hypertension were excluded from this study. Available profiles of 24 patients were reviewed and the underlying congenital cardiovascular anomalies contributing to the clinical manifestation of stridor were analyzed, including chart recordings, chest radiograms, echocardiograms, computerized tomography, electrocardiograms, esophagograms, cardiac catheterization, magnetic resonance imaging, and bronchography. RESULTS: Stridor was an early sign of congenital cardiovascular anomalies, including double aortic arch, right aortic arch (RAA) with Kommerell diverticulum, mirror-image right aortic arch with aortic diverticulum, anomalous right innominate artery, left pulmonary artery sling, RAA with tetralogy of Fallot and persistent fifth aortic arch, a vertical patent ductus arteriosus from a transverse left aortic arch, and absent pulmonary valve syndrome. Notably, chest radiography provided the first clue of RAA in 18 of the 24 patients. CONCLUSIONS: Stridor can be a harbinger of congenital cardiovascular anomalies causing central airway compression in pediatric patients.

Pitfalls in the management of congenital tracheal stenosis: is conservative management feasible?

PURPOSE: Congenital tracheal stenosis (CTS) is rare and challenging. Complete tracheal rings cause a wide spectrum of airway-obstructing lesions and varying degrees of respiratory distress. Although surgical reconstruction is the primary option for symptomatic CTS, sometimes an appropriate management strategy may be difficult due to other anomalies. We aimed to identify pitfalls in the management of CTS. METHODS: We retrospectively reviewed the records of patients with CTS during the last 10 years in our institution. RESULTS: Sixteen pediatric patients were diagnosed with CTS. Of the 16 patients, 12 (75.0%) had cardiovascular anomalies including seven left pulmonary artery sling. Six patients with dyspnoea caused by CTS and three patients with difficult intubations due to CTS underwent tracheoplasty. Four patients underwent only cardiovascular surgery without tracheoplasty. Three asymptomatic patients were followed up without undergoing any surgical procedure. We repeatedly discussed management of four patients with especially complex pathophysiology at multidisciplinary meetings. Right ventricular outflow tract obstruction, tracheobronchial malacia, increased pulmonary blood flow, and pulmonary aspiration due to gastroesophageal reflux presumably accounted for their severe respiratory distress, and we forewent their tracheal reconstruction. CONCLUSION: The management of CTS should be individualized, and conservative management is a feasible option in selected cases.

Case report: Echocardiographic and computed tomographic features of congenital bronchoesophageal artery hypertrophy and fistula in a dog.

Introduction: Studies on aberrant bronchoesophageal arteries are limited. Herein, we report a case of a multi-origin systemic-to-pulmonary shunt with suspected bronchoesophageal artery hypertrophy and fistula in a dog. Case report: A 4-year-old castrated male beagle weighing 11 kg underwent routine medical screening. Physical examination revealed a right-sided continuous murmur of grades 1-2. Thoracic radiography revealed a mild cardiomegaly. Echocardiography revealed a continuous turbulent shunt flow distal to the right pulmonary artery (RPA) branch from the right parasternal short axis pulmonary artery view. Computed tomography demonstrated systemic-to-pulmonary shunts originating from the descending aorta at the level of T7-8, the right 5th and 6th dorsal intercostal arteries, and the right brachiocephalic trunk, which formed anomalous networks around the trachea and esophagus that anastomosed into a large tortuous vessel at the level of T6-7 and entered the RPA. Surgical ligation of multiple shunting vessels was performed. Postoperative echocardiography and computed tomography showed decreased left ventricular volume overload and markedly decreased size of the varices. Additionally, most of the shunting vessels were without residual shunt flow. Conclusion: The present study provides information regarding imaging features and the successful surgical management of multiple systemic-to-pulmonary shunts originating from the descending aorta, right brachiocephalic trunk, and intercostal arteries and terminating at the RPA. Multimodal imaging features after surgical ligation have also been described.

Development of three-dimensional cardiac models from computed tomography angiography.

Three-dimensional (3D) modeling and printing is an emerging technology in veterinary cardiovascular medicine allowing the fabrication of anatomically correct patient-specific models. These patient-specific models can be used for a wide range of purposes including medical teaching, assessment of cardiac function and movement of valve leaflets, design and assessment of devices created for interventional procedures, and pre-surgical planning [1-3]. Additionally, these 3D models can facilitate communication between the clinical team and the patient's owner. The process of creating 3D models starts with acquiring volumetric imaging data sets of the area of interest. Three-dimensional modeling and printing are reliable when high-quality volumetric imaging data are used to create these models. Currently, only ungated- and electrocardiogram (ECG)-gated computed tomography (CT), cardiac magnetic resonance imaging (CMRI), and 3D echocardiography provide the volumetric data sets needed to create these 3D models. These imaging data sets are imported into a software or open-source freeware platform and then segmented to create a virtual 3D model. This virtual 3D model can be further refined using computer-aided design (CAD) software and then be printed to create a physical 3D model. Cardiovascular 3D modeling and printing is a new medical tool which allows us to expand the way we plan interventional procedures, practice interventional skills, communicate with the medical team and owner, and teach future veterinarians.

Rare Vascular Anomalies in an Adult: Absent Left Pulmonary Artery With a Right-Sided Aortic Arch.

Congenital absence of the left pulmonary artery remains a rarely reported anomalous condition and is even less commonly seen in conjunction with a right-sided aortic arch. While most cases are identified during prenatal fetal ultrasonography and require early childhood intervention, some asymptomatic cases can go unrecognized until incidentally detected on chest imaging as an adult. This case details a 31-year-old male with a congenital absence of the left pulmonary artery and right-sided aortic arch with subsequent atretic and fibrotic lung, all found on imaging during admission for acute alcoholic hepatitis.

Hypogenetic right lung with partial anomalous pulmonary venous return and accessory diaphragm: a case of "scimitar lung".

Partial anomalous pulmonary venous return (PAPVR) is a rare congenital cardiovascular condition in which some of the pulmonary veins drain into the systemic circulation. We report on the cadaveric dissection of a 71-year-old Caucasian male donor who died of chronic obstructive pulmonary disease with hypertension. We noted a faint incisional scar on the thorax extending from the parasternal region at the 4th intercostal level to the midaxillary line. Since the straight-line incision followed the ribs and the scar was quite faint, surgery probably occurred when the donor was young. We also observed numerous surgical interventions of the heart, lungs, and vasculature to correct various defects. The morphology of the heart was normal, but was shifted more to the right side. An atrial septal defect (ASD) was closed with sutures. The right superior pulmonary vein that drained into the superior vena cava (SVC) was ligated close to the SVC and the right inferior, left superior, and inferior pulmonary veins all drained directly into the left atrium. We noticed a dilated coronary sinus entering the right atrium adjacent to the ASD; the ostium of the coronary sinus noticeably lacked the normal valve-like structure. We initially thought the right lung was a "horseshoe" lung, but realised that it was a "hypogenetic" lung with PAPVR and an accessory diaphragm. Compared to the left, the right secondary bronchi were much narrower and branched uncharacteristically, as seen in hypogenetic lung syndrome. The inferior lobe was highly disorganised, severely hypoplastic, and exhibited uncharacteristic morphology. The superior bronchopulmonary segment was markedly hypoplastic. The posterior and medial basal segments were not only hypoplastic and slender, but also extended like a tail to the left pulmonary cavity behind the heart/pericardium and in front of the oesophagus and aorta. The right lung, though hypoplastic, demonstrated patent bronchi and the lobes were inflatable. Based on the hypogenetic lung and PAPVR, we conclude that the donor exhibited 'scimitar' lung.

Case report: Imaging features of aorta-right atrial tunnel in a dog using two-dimensional echocardiography and computed tomography.

A 7-year-old castrated male Pomeranian dog weighing 5 kg presented with a right-sided continuous murmur without any clinical signs. Thoracic radiographs indicated cardiomegaly and right atrial (RA) bulging. Echocardiography revealed a tunnel originating from the right coronary sinus of Valsalva and terminating in the RA. Contrast echocardiography revealed pulmonary arteriovenous anastomoses. Computed tomography (CT) demonstrated a tortuous shunting vessel that originated from the aorta extending in a ventral direction, ran along the right ventricular wall, and was inserted into the RA. Based on these diagnostic findings, the dog was diagnosed with the aorta-RA tunnel. At the 1-year follow-up visit without treatment, the dog showed no significant change except for mild left ventricular volume overload and mildly decreased contractility. To the best of our knowledge, this is the first case report of an aorta-RA tunnel that has been described in detail using echocardiography and CT in a dog. In conclusion, the aorta-RA tunnel should be included in the clinical differential diagnoses if a right-sided continuous murmur is heard or shunt flow originating from the aortic root is identified.

Outcomes of slide tracheoplasty for congenital tracheal stenosis in 80 children: A 22-year single-center experience.

PURPOSE: The application of slide tracheoplasty (STP) in the treatment of congenital tracheal stenosis (CTS) has improved patient outcomes over the past few decades. We reviewed our experiences with the procedure, elucidated risk factors, and discussed important aspects of perioperative management to improve outcomes. METHOD: Patients with CTS undergoing STP between July 1998 and December 2020 were enrolled. Patient characteristics, perioperative condition, management, operative details, and outcomes, including mortality and postoperative intervention, were collected from medical records. RESULTS: Eighty patients underwent STP. Sixty-five patients (81.3%) had an associated cardiovascular anomaly. Thirteen patients (16.3%) had unilateral lung agenesis or hypoplasia. Preoperative mechanical ventilation was necessary in 54 (67.5%) patients, and extracorporeal membrane oxygenation (ECMO) was required in eight patients (10.0%). An endotracheal tube was placed before the stenotic entrance to avoid granulation. During STP, the trachea was dissected as little as possible to maintain the blood supply. The one-year survival rate was 88.8% (nine patients died). One patient (1.3%) required postoperative balloon dilation, and none required stenting or granulation removal. Of the survivors, 62 (92.5%) achieved successful extubation without tracheostomy. Multivariable analysis revealed complex cardiovascular anomaly (P = 0.05) and preoperative ECMO (P = 0.019) to be adverse predictors of survival. CONCLUSION: Although STP can be performed successfully in CTS patients, surgeons and families should be aware of factors that may lead to a more difficult postoperative course or increase the mortality. Meticulous, perioperative positioning of the endotracheal tube and preserving the tracheal blood flow can minimize the need for postoperative intervention.

Anomalous atrium associated with persistent left superior vena cava.

Persistent left superior vena cava (PLSVC) is the most common venous anomaly with an incidence of 0.3-0.5% in the general population. Here, we report a rare case of PLSVC with anomalous atrium in a cadaver during the student's dissection session at the University of Tsukuba. In this case, the coronary sinus had merged with the right atrium to form an enlarged sac-like structure and received systemic venous flow including inflow from the PLSVC. The roof of the coronary sinus with the right atrium was thicker than that of the control cases. We further found that the distance between the sinoatrial node and the opening of the coronary sinus was slightly more than half of that in control cases. This variant appears interesting and is worth reporting for developmental and clinical consideration.

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies. The most common CDG is caused by pathogenic variants in the phosphomannomutase 2 gene (PMM2), which impairs one of the first steps of N-glycosylation and affects multiple organ systems. Cardiac involvement can include pericardial effusion, cardiomyopathy, and arrhythmia, while an association with cardiovascular congenital anomalies is not well studied. CASE SUMMARY: We report a 6-year-old individual who initially presented with inverted nipples, developmental delay, and failure to thrive at 3 months of age. At 4 months, due to feeding problems, swallowing exam and echocardiography were performed which revealed a vascular ring anomaly based on a right aortic arch and aberrant left subclavian artery. Subsequent whole exome gene sequencing revealed two pathogenic PMM2-CDG variants (E139K/R141H) and no known pathogenic mutations related to congenital heart defect (CHD). DISCUSSION: This is the first report of vascular ring anomaly in a patient with PMM2-CDG. We conducted a literature review of PMM2-CDG patients with reported CHD. Of the 14 patients with PMM2-CDG and cardiac malformation, the most common CHD's were tetralogy of Fallot, patent ductus arteriosus, and truncus arteriosus. The potential important link between CDG and CHD is stressed and discussed. Furthermore, the importance of multidisciplinary care for CDG patients including early referral to pediatric cardiologists is highlighted.

Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia.

BACKGROUND: In developing countries, infants with Down syndrome and cardiac defect are at increased risk of dying. Congenital heart diseases occur in 40-50% of affected infants. Endocardial cushion defect accounts for the most. Pattern of cardiac defects in Down syndrome vary with ethnicity. The current study aims to determine pattern of cardiac defects and survival of patients in our institution. METHODS: Hospital based review of cases, between April 2010 and may 2015 were made. Data were analyzed using SPSS version 20 software quantitatively with plotted Kaplan Meier survival curve done. RESULTS: Down syndrome cases, 53 male and 63 females with cardiac anomalies, were described. Patent ductus arteriosus occurs in 57(36.5%), Ventricular septal defect in 31(19.9%), Atrial septal defect in 30(19%), Atrio-ventricular septal defect in 29(18.6%),Tetralogy of Fallot in 4(2.6%) and others in 5(3.2%) cases. Cases were alive, lost to follow-up and died in 59, 35 and 22 cases, respectively. The overall death rate was 19% and two-third of them died during infancy with females dying at an earlier age than males. Pulmonary hypertension, hypothyroidism and gastrointestinal disorders were diagnosed in 46, 21 and 4 of the cases, respectively. Reasons for lost to follow-up were discussed. CONCLUSION: The pattern of cardiac anomalies in our study among Down syndrome cases is dominated by Patent ductus arteriosus while, the overall survival of cases is guarded as majority of deaths occurred during infancy.

A unique variant of a right persistent hypoglossal artery arising from the common carotid artery with complex cardiovascular anomalies in a female neonatal patient.

Persistent primitive hypoglossal artery is a carotid-vertebrobasilar anastomosis, which commonly arises from the internal carotid artery at the level of the C (cervical) 1-3 vertebrae. We describe a unique case of a female infant patient with this anomaly that has an unusually low origin from the distal common carotid artery just below the bifurcation at the level of roughly C5 and supplies the entire vertebrobasilar system. Additional cardiovascular anatomical variations were present: Tetralogy of Fallot and a right-sided aortic arch with mirror image branching. These singular variations are rare in the general population, but even rarer when combined. Awareness of these unusual vascular variants is clinically significant, as they may predispose the patients to early ischemic injury, hemorrhage, aneurysm formation, and can be essential in surgical planning. Therefore, radiographic imaging is of importance in proper diagnosis of such variants.

Morphological features of complex congenital cardiovascular anomalies in fetuses: as evaluated by cast models.

Accurate prenatal diagnosis of complex congenital cardiovascular anomalies, vascular ones in particular, is still challenging. A fetal cardiovascular cast model can provide a copy of the cardiac chambers and great vessels with normal or pathological structures. This study was aimed to demonstrate three-dimensional anatomy of complex congenital cardiovascular anomalies in fetuses by means of corrosion casting. Twenty fetuses with prenatal-ultrasound-diagnosed complex cardiovascular anomalies were enrolled in this study (19 to 35 gestational weeks). Fetal cardiovascular cast models were made by a corrosion casting technique. The specimens were injected with casting material via the umbilical vein, and then immersed in strong acid after casting fluid was solidified, to disclose the geometries of cardiovascular cavities. Nineteen cast models were successfully made from 20 specimens. The casts distinctly showed the morphological malformations and spatial relationship between cardiac chambers and great vessels. One hundred and eleven abnormalities were revealed by casting in the 19 specimens, including 34 abnormalities located in the cardiac chambers (3, 4 and 27 anomalies in the atria, atrioventricular valves and ventricles, respectively), and 77 in the great vessels (28, 20, 24 and 5 anomalies in the aorta and its branches, the pulmonary artery, the ductus arteriosus and the major veins, respectively). Corrosion casting can display three-dimensional anatomy of fetal complex cardiovascular anomalies. This improves our understanding of related pathomorphology and prenatal diagnosis.

Unilateral Absence of the Left Pulmonary Artery With an Associated Vascular Anomaly in Adulthood.

Left-sided pulmonary artery agenesis is a rare malformation that commonly requires childhood intervention secondary to associated congenital cardiovascular anomalies. We present an uncommon case of left-sided agenesis with an associated right-sided aortic arch and significant hypoplasia of the ipsilateral lung. Additionally, there is radiographic evidence of emphysema and pulmonary artery hypertension. Pulmonary artery agenesis is not a common entity, but should be considered in adult patients presenting with recurrent pneumonias and radiographic evidence suggestive of pulmonary hypoplasia. A prompt diagnosis is beneficial for affected individuals who may be candidates for a revascularization procedure or embolization of collaterals. Earlier diagnosis also allows for proper management and follow-up care, considering pulmonary artery hypertension is a severe complication of pulmonary artery agenesis.

Fetal cardiac circulation in isolated aortic atresia assessed with ultrasound.

Congenital heart diseases are common, with an incidence of more than 8 in 1000 live births. Aortic atresia is a rare diagnosis and its prognosis is very poor. In this article, we present a case of isolated aortic atresia, a very rare cardiovascular anomaly, and its fetal ultrasound findings which include blood flow at foramen ovale from left to right, right deviation of the interventricular septum, dysfunction of the mitral valve and cardiomegaly. Aortic stenosis should be considered in the differential diagnosis of aortic atresia. However, in the case of severe aortic stenosis and/or accompanying ventricular septal defect, differential diagnosis may not be done.

Morphological Features of Complex Congenital Cardiovascular Anomalies in Fetuses: as Evaluated by Cast Models / 华中科技大学学报（医学）（英德文版）

Accurate prenatal diagnosis of complex congenital cardiovascular anomalies,vascular ones in particular,is still challenging.A fetal cardiovascular cast model can provide a copy of the cardiac chambers and great vessels with normal or pathological structures.This study was aimed to demonstrate three-dimensional anatomy of complex congenital cardiovascular anomalies in fetuses by means of corrosion casting.Twenty fetuses with prenatal-ultrasound-diagnosed complex cardiovascular anomalies were enrolled in this study (19 to 35 gestational weeks).Fetal cardiovascular cast models were made by a corrosion casting technique.The specimens were injected with casting material via the umbilical vein,and then immersed in strong acid after casting fluid was solidified,to disclose the geometries of cardiovascular cavities.Nineteen cast models were successfully made from 20 specimens.The casts distinctly showed the morphological malformations and spatial relationship between cardiac chambers and great vessels.One hundred and eleven abnormalities were revealed by casting in the 19 specimens,including 34 abnormalities located in the cardiac chambers (3,4 and 27 anomalies in the atria,atrioventricular valves and ventricles,respectively),and 77 in the great vessels (28,20,24 and 5 anomalies in the aorta and its branches,the pulmonary artery,the ductus arteriosus and the major veins,respectively).Corrosion casting can display three-dimensional anatomy of fetal complex cardiovascular anomalies.This improves our understanding of related pathomorphology and prenatal diagnosis.