Different anomalies related to the inappropriate development of the ductus arteriosus or the aortic arch have been described, in some cases accompanied with chromosomal or morphological anomalies, and also being able to form a vascular ring that can compromise the postnatal life.
The document discusses imaging of congenital heart diseases, describing the main types of defects such as atrial septal defects (ASD), ventricular septal defects (VSD), and patent ductus arteriosus (PDA). It provides details on the anatomy, classifications, imaging findings, and clinical presentations of each type of defect. Examples of echocardiograms and chest x-rays are shown to illustrate the imaging appearance of various congenital heart abnormalities.
This document discusses the use of echocardiography in evaluating congenital heart diseases in adults. It outlines the indications for echocardiography and describes how to perform the examination and interpret findings. Key abnormalities that can be identified include atrial septal defects, ventricular septal defects, atrioventricular septal defects, anomalies of venous inflow, and abnormalities of ventricular morphology. Echocardiography is well-suited for diagnosing and monitoring these congenital heart conditions in adulthood.
segment approach to congenital heart diseasesSumiya Arshad
The Van Praagh classification system uses a "S, D, S" notation to systematically analyze congenital heart defects based on 1) visceroatrial situs, 2) ventricular loop orientation, and 3) position of the great arteries. This facilitates communication between physicians by providing a standardized approach to describing abnormalities in cardiac chamber position, connections, and vessel arrangements.
Generally occurs secondary to pulmonary atresia with intact IVS .
Pathophysiology- it develops because of a reduction in the blood flow secondary to inflow impedence from tricuspid atresia or outflow impedence from pulmonary arterial atresia .
Typical findings- a small , hypertrophic RV and a small or absent pulmonary artery
This document summarizes various congenital heart diseases including obstructive, acyanotic, and cyanotic lesions. It describes defects that cause increased, decreased, or mixed blood flow patterns. Specific conditions covered include coarctation of the aorta, atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, transposition of the great arteries, and Ebstein's anomaly. Diagrams and descriptions of characteristic radiographic findings are provided for each condition.
This document discusses whether transposition of the great arteries (TGA) is a laterality defect associated with heterotaxy syndromes or an outflow tract malformation. It provides background on TGA, definitions of heterotaxy, and the embryonic development of the cardiac outflow tract. Recent genetic data suggests TGA may be linked to laterality gene defects, rather than outflow tract gene defects. However, the aim of the study is to determine if there is a statistically significant association between TGA and clinically diagnosed laterality defects through analysis of over 500 TGA patient cases.
Fetal MRI can provide additional useful information when evaluating congenital heart disease (CHD) prenatally. It may help characterize complex CHD and detect associated extracardiac abnormalities when ultrasound is inconclusive. Fetal MRI is particularly helpful in the late second and third trimesters as ultrasound can be limited by decreasing amniotic fluid and ossifying ribs. It allows assessment of organs like the lungs, thymus and brain that may be involved with certain CHD or genetic syndromes.
Transposition of Great Arteries;TGA,Firas Aljanadi,MDFIRAS ALJANADI
This document provides information on complete transposition of the great arteries (TGA), a congenital heart defect where the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. Key points include:
- TGA accounts for 9.9% of congenital heart disease in infants. Untreated, 90% of children with intact ventricular septum will die by age 1.
- Diagnosis can be made via echocardiogram which can define anatomy and flow directions. Catheterization may be needed for unclear cases.
- Primary treatments include arterial switch operation for intact septum or small VSD. Balloon septostomy can stabilize patients before repair. Pul
The document discusses imaging of congenital heart diseases, describing the main types of defects such as atrial septal defects (ASD), ventricular septal defects (VSD), and patent ductus arteriosus (PDA). It provides details on the anatomy, classifications, imaging findings, and clinical presentations of each type of defect. Examples of echocardiograms and chest x-rays are shown to illustrate the imaging appearance of various congenital heart abnormalities.
This document discusses the use of echocardiography in evaluating congenital heart diseases in adults. It outlines the indications for echocardiography and describes how to perform the examination and interpret findings. Key abnormalities that can be identified include atrial septal defects, ventricular septal defects, atrioventricular septal defects, anomalies of venous inflow, and abnormalities of ventricular morphology. Echocardiography is well-suited for diagnosing and monitoring these congenital heart conditions in adulthood.
segment approach to congenital heart diseasesSumiya Arshad
The Van Praagh classification system uses a "S, D, S" notation to systematically analyze congenital heart defects based on 1) visceroatrial situs, 2) ventricular loop orientation, and 3) position of the great arteries. This facilitates communication between physicians by providing a standardized approach to describing abnormalities in cardiac chamber position, connections, and vessel arrangements.
Generally occurs secondary to pulmonary atresia with intact IVS .
Pathophysiology- it develops because of a reduction in the blood flow secondary to inflow impedence from tricuspid atresia or outflow impedence from pulmonary arterial atresia .
Typical findings- a small , hypertrophic RV and a small or absent pulmonary artery
This document summarizes various congenital heart diseases including obstructive, acyanotic, and cyanotic lesions. It describes defects that cause increased, decreased, or mixed blood flow patterns. Specific conditions covered include coarctation of the aorta, atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, transposition of the great arteries, and Ebstein's anomaly. Diagrams and descriptions of characteristic radiographic findings are provided for each condition.
This document discusses whether transposition of the great arteries (TGA) is a laterality defect associated with heterotaxy syndromes or an outflow tract malformation. It provides background on TGA, definitions of heterotaxy, and the embryonic development of the cardiac outflow tract. Recent genetic data suggests TGA may be linked to laterality gene defects, rather than outflow tract gene defects. However, the aim of the study is to determine if there is a statistically significant association between TGA and clinically diagnosed laterality defects through analysis of over 500 TGA patient cases.
Fetal MRI can provide additional useful information when evaluating congenital heart disease (CHD) prenatally. It may help characterize complex CHD and detect associated extracardiac abnormalities when ultrasound is inconclusive. Fetal MRI is particularly helpful in the late second and third trimesters as ultrasound can be limited by decreasing amniotic fluid and ossifying ribs. It allows assessment of organs like the lungs, thymus and brain that may be involved with certain CHD or genetic syndromes.
Transposition of Great Arteries;TGA,Firas Aljanadi,MDFIRAS ALJANADI
This document provides information on complete transposition of the great arteries (TGA), a congenital heart defect where the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. Key points include:
- TGA accounts for 9.9% of congenital heart disease in infants. Untreated, 90% of children with intact ventricular septum will die by age 1.
- Diagnosis can be made via echocardiogram which can define anatomy and flow directions. Catheterization may be needed for unclear cases.
- Primary treatments include arterial switch operation for intact septum or small VSD. Balloon septostomy can stabilize patients before repair. Pul
This document discusses aortic arch anomalies. It begins by describing normal aortic arch development. It then defines vascular rings as vessels that encircle the trachea and esophagus, causing symptoms. It classifies the main types of vascular rings as complete rings (double aortic arch with right/left/balanced dominance, right aortic arch with left ductus arteriosus) and incomplete rings (innominate artery compression, pulmonary artery sling, left aortic arch with aberrant right subclavian). Each type of ring is described in detail with examples and images provided.
Classical cong.h disease 5th power point presentation (3)RiyadhWaheed
This document discusses the classic imaging signs of several congenital cardiovascular abnormalities seen on radiographs. It describes signs such as the "egg on a string" appearance of transposition of the great arteries, the "snowman" sign of total anomalous pulmonary venous return, the "scimitar sign" of anomalous pulmonary venous drainage, the "gooseneck deformity" of endocardial cushion defect, the "boot shape" of tetralogy of Fallot, the "box shape" of Ebstein's anomaly, and the "figure 3 sign" of aortic coarctation. Understanding these classic signs is essential for radiologists and physicians to identify congenital heart abnormalities.
1. Aortic arch anomalies result from errors in the embryological development of the branchial arches and the regression of vascular structures. They account for 15-20% of all congenital cardiovascular diseases.
2. Strong associations have been found between arch anomalies and chromosomal/genetic abnormalities like deletions on chromosome 22q11.
3. Arch anomalies can cause symptoms from airway or esophageal compression or be incidental findings on imaging. The most common types are double aortic arch, right aortic arch with aberrant left subclavian artery, and right aortic arch with retroesophageal diverticulum of Kommerell.
This document summarizes research on malformations of the fetal venous system. It begins by classifying anomalies based on the four embryonic venous systems: cardinal, umbilical, vitelline, and pulmonary. It then describes specific anomalies in more detail, including heterotaxy syndromes affecting the cardinal veins, persistent left superior vena cava, anomalies of the umbilical veins like agenesis of the ductus venosus, and persistent right umbilical vein. Many of these anomalies are associated with cardiac defects or genetic syndromes. Ultrasound is an important tool for evaluating the fetal venous system and identifying anomalies that can impact fetal circulation and growth.
This document discusses the embryology, causes, and presentation of a right aortic arch with an aberrant left subclavian artery, which is a type of vascular ring. It notes that the causes of these anomalies are unclear. It reports that in one study, 22q11 deletions were found in 28% of patients with this specific vascular ring anomaly. The document then presents a case study of a 32-year old pregnant patient whose ultrasound revealed this type of vascular ring.
CT plays an important role in evaluating various congenital heart diseases. It can be used to confirm diagnoses, assess anatomy in detail, evaluate shunts and obstructions, and help determine the best treatment approach. The document discusses how CT can evaluate conditions like atrial and ventricular septal defects, patent ductus arteriosus, transposition of the great arteries, tetralogy of Fallot, total anomalous pulmonary venous return, pulmonary vein anomalies, aortic stenosis, coarctation of the aorta, and more. CT provides detailed anatomical information to complement other imaging modalities in the assessment of complex congenital heart disease.
A Road from Coronary to Pulmonary: A Rare Imaging Presentationpateldrona
This case report describes a rare presentation in a 21-year-old female patient with pentalogy of Fallot. Cardiac CT imaging revealed multiple sources of blood flow to the lungs including a dilated left main coronary artery to right pulmonary artery collateral, a patent ductus arteriosus to the left pulmonary artery, and multiple aortopulmonary collateral arteries. This represents an extremely rare occurrence of coronary-pulmonary connections providing a major source of pulmonary blood flow in addition to normally seen aortopulmonary collaterals. Detection of these varied collateral pathways has important implications for surgical planning in such complex congenital heart disease cases.
A Road from Coronary to Pulmonary: A Rare Imaging Presentationclinicsoncology
This case report describes a rare presentation in a 21-year-old female patient with pentalogy of Fallot. Cardiac CT imaging revealed multiple sources of blood flow to the lungs, including a dilated coronary artery-to-pulmonary artery collateral from the left main coronary artery to the right pulmonary artery, as well as a patent ductus arteriosus connecting the aorta to the left pulmonary artery. Additionally, there were several major aortopulmonary collateral arteries arising from the descending aorta. This represents an extremely rare finding, as coronary-to-pulmonary connections are unusual. Identifying all sources of pulmonary blood flow is important for surgical planning in patients with conditions like pentalogy of Fallot and
A Road from Coronary to Pulmonary: A Rare Imaging Presentationgeorgemarini
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Its association with Pulmonary Atresia is considered to be the most severe form, the diagnosis of which plays an important role in determination of the treatment protocol. In such cases, systemic vascular channels called Major Aortopulmonary Collateral Arteries (MAPCA’s) develop from aorta and its major branches to supply and maintain the pulmonary circulation. Such patients commonly undergo a Cardiac CT as an imperative pre-operative investigation for detailed information of these collaterals which helps plan further management. Here, we present a Case Report of an adult female patient with Pentalogy of Fallot wherein, a Cardiac CT showed the presence of dilated coronary-to-pulmonary collateral circulation. i.e. CAPA apart from the normally visualized MAPCA’s, an extremely rare occurrence.
A Road From Coronary To Pulmonary: A Rare Imaging Presentationkomalicarol
This case report describes a rare presentation in a 21-year-old female patient with pentalogy of Fallot. Cardiac CT revealed multiple sources of blood flow to the lungs including a dilated left main coronary artery to right pulmonary artery collateral, a patent ductus arteriosus to the left pulmonary artery, and multiple major aortopulmonary collateral arteries. This represents an extremely rare occurrence of coronary-pulmonary connections providing a major source of pulmonary blood flow in addition to normally seen major aortopulmonary collaterals. Detection of these various collateral pathways is important for surgical planning in such patients.
1) Transthoracic and transesophageal echocardiography are important modalities for assessing atrial septal defects (ASDs). TTE can identify RV volume overload and septal flattening, while TEE precisely measures defect size and evaluates rim morphology.
2) The four main types of ASDs - ostium secundum, ostium primum, sinus venosus, and coronary sinus defects - have distinguishing echo features. Doppler can demonstrate shunt direction and magnitude.
3) Echocardiography guides percutaneous ASD closure by assessing defect and rim anatomy, device sizing, and post-procedure result. Understanding echo features is key to ensuring procedure success.
VASCULAR RINGS AND SLINGS TYPES HAEMODYNAMICS PRESENTATION AND DIAGNOSIS.pptxJaydeep Malakar
Vascular rings are congenital anomalies where the aorta and its branches completely or incompletely encircle the trachea and esophagus. There are two main types - complete rings which fully encircle the airways and incomplete rings which partially encircle. Common types include double aortic arch, right aortic arch with retroesophageal vessels, and pulmonary artery sling. Clinical features include noisy breathing, cough, wheezing and recurrent respiratory infections in infants and children. Investigations include chest x-ray, CT, MRI and bronchoscopy to identify the specific ring and any tracheal compression. Surgical repair is usually indicated for symptomatic patients to prevent further airway damage.
This document provides an overview of fetal cardiac anomalies that can be identified on antenatal ultrasound. It describes the basic views used in fetal cardiac ultrasound examination and how to evaluate situs, laterality and orientation. It then discusses various types of septal defects, conotruncal anomalies, aortic arch anomalies and other conditions like hypoplastic left/right heart syndrome. Specific ultrasound findings that help identify ventricular septal defect, tetralogy of Fallot, transposition of great arteries and other anomalies are presented.
This document discusses anomalies of the fetal venous system. It begins with a classification system that expands on the four major embryonic venous systems (umbilical, vitelline, cardinal, pulmonary). It then reviews etiology and sonographic appearance of anomalies in these systems. Specifically it discusses heterotaxy syndromes affecting the cardinal veins, anomalies of the umbilical veins including agenesis of the ductus venosus and persistent right umbilical vein, and classification of these anomalies. Outcomes are discussed for different venous anomalies depending on associated malformations. Precise prenatal diagnosis of venous anomalies is possible using ultrasound.
Radiographic Presentation of Congenital Heart DiseaseTarique Ajij
1. The document discusses the radiographic presentation of various congenital heart diseases including atrial septal defects, ventricular septal defects, patent ductus arteriosus, atrioventricular septal defects, pulmonic stenosis, aortic stenosis, coarctation of the aorta, tetralogy of Fallot, Ebstein's anomaly, transposition of the great arteries, truncus arteriosus, and total anomalous pulmonary venous connection.
2. Key findings on chest x-rays are described such as enlargement of specific heart chambers, changes in pulmonary vascularity, positioning of the great vessels, and rib notching.
3. Diagnosis is made through precordial examination, echocard
This study analyzed 86 fetuses prenatally diagnosed with right aortic arch (RAA) without associated cardiac abnormalities. The study found rates of chromosomal abnormalities, 22q11.2 deletion, and fetal extracardiac anomalies to be 14.1%, 6.4%, and 17.4%, respectively. A systematic review and meta-analysis of 16 studies including this cohort, totaling 312 fetuses, estimated overall rates of chromosomal abnormalities and 22q11.2 deletion to be 9.0% and 6.1%, and lower rates of 4.6% and 5.1% for those without extracardiac anomalies. Nearly half (47.7%) of fetuses had a vascular ring formation. Most
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This document discusses aortic arch anomalies. It begins by describing normal aortic arch development. It then defines vascular rings as vessels that encircle the trachea and esophagus, causing symptoms. It classifies the main types of vascular rings as complete rings (double aortic arch with right/left/balanced dominance, right aortic arch with left ductus arteriosus) and incomplete rings (innominate artery compression, pulmonary artery sling, left aortic arch with aberrant right subclavian). Each type of ring is described in detail with examples and images provided.
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This document discusses the classic imaging signs of several congenital cardiovascular abnormalities seen on radiographs. It describes signs such as the "egg on a string" appearance of transposition of the great arteries, the "snowman" sign of total anomalous pulmonary venous return, the "scimitar sign" of anomalous pulmonary venous drainage, the "gooseneck deformity" of endocardial cushion defect, the "boot shape" of tetralogy of Fallot, the "box shape" of Ebstein's anomaly, and the "figure 3 sign" of aortic coarctation. Understanding these classic signs is essential for radiologists and physicians to identify congenital heart abnormalities.
1. Aortic arch anomalies result from errors in the embryological development of the branchial arches and the regression of vascular structures. They account for 15-20% of all congenital cardiovascular diseases.
2. Strong associations have been found between arch anomalies and chromosomal/genetic abnormalities like deletions on chromosome 22q11.
3. Arch anomalies can cause symptoms from airway or esophageal compression or be incidental findings on imaging. The most common types are double aortic arch, right aortic arch with aberrant left subclavian artery, and right aortic arch with retroesophageal diverticulum of Kommerell.
This document summarizes research on malformations of the fetal venous system. It begins by classifying anomalies based on the four embryonic venous systems: cardinal, umbilical, vitelline, and pulmonary. It then describes specific anomalies in more detail, including heterotaxy syndromes affecting the cardinal veins, persistent left superior vena cava, anomalies of the umbilical veins like agenesis of the ductus venosus, and persistent right umbilical vein. Many of these anomalies are associated with cardiac defects or genetic syndromes. Ultrasound is an important tool for evaluating the fetal venous system and identifying anomalies that can impact fetal circulation and growth.
This document discusses the embryology, causes, and presentation of a right aortic arch with an aberrant left subclavian artery, which is a type of vascular ring. It notes that the causes of these anomalies are unclear. It reports that in one study, 22q11 deletions were found in 28% of patients with this specific vascular ring anomaly. The document then presents a case study of a 32-year old pregnant patient whose ultrasound revealed this type of vascular ring.
CT plays an important role in evaluating various congenital heart diseases. It can be used to confirm diagnoses, assess anatomy in detail, evaluate shunts and obstructions, and help determine the best treatment approach. The document discusses how CT can evaluate conditions like atrial and ventricular septal defects, patent ductus arteriosus, transposition of the great arteries, tetralogy of Fallot, total anomalous pulmonary venous return, pulmonary vein anomalies, aortic stenosis, coarctation of the aorta, and more. CT provides detailed anatomical information to complement other imaging modalities in the assessment of complex congenital heart disease.
A Road from Coronary to Pulmonary: A Rare Imaging Presentationpateldrona
This case report describes a rare presentation in a 21-year-old female patient with pentalogy of Fallot. Cardiac CT imaging revealed multiple sources of blood flow to the lungs including a dilated left main coronary artery to right pulmonary artery collateral, a patent ductus arteriosus to the left pulmonary artery, and multiple aortopulmonary collateral arteries. This represents an extremely rare occurrence of coronary-pulmonary connections providing a major source of pulmonary blood flow in addition to normally seen aortopulmonary collaterals. Detection of these varied collateral pathways has important implications for surgical planning in such complex congenital heart disease cases.
A Road from Coronary to Pulmonary: A Rare Imaging Presentationclinicsoncology
This case report describes a rare presentation in a 21-year-old female patient with pentalogy of Fallot. Cardiac CT imaging revealed multiple sources of blood flow to the lungs, including a dilated coronary artery-to-pulmonary artery collateral from the left main coronary artery to the right pulmonary artery, as well as a patent ductus arteriosus connecting the aorta to the left pulmonary artery. Additionally, there were several major aortopulmonary collateral arteries arising from the descending aorta. This represents an extremely rare finding, as coronary-to-pulmonary connections are unusual. Identifying all sources of pulmonary blood flow is important for surgical planning in patients with conditions like pentalogy of Fallot and
A Road from Coronary to Pulmonary: A Rare Imaging Presentationgeorgemarini
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Its association with Pulmonary Atresia is considered to be the most severe form, the diagnosis of which plays an important role in determination of the treatment protocol. In such cases, systemic vascular channels called Major Aortopulmonary Collateral Arteries (MAPCA’s) develop from aorta and its major branches to supply and maintain the pulmonary circulation. Such patients commonly undergo a Cardiac CT as an imperative pre-operative investigation for detailed information of these collaterals which helps plan further management. Here, we present a Case Report of an adult female patient with Pentalogy of Fallot wherein, a Cardiac CT showed the presence of dilated coronary-to-pulmonary collateral circulation. i.e. CAPA apart from the normally visualized MAPCA’s, an extremely rare occurrence.
A Road From Coronary To Pulmonary: A Rare Imaging Presentationkomalicarol
This case report describes a rare presentation in a 21-year-old female patient with pentalogy of Fallot. Cardiac CT revealed multiple sources of blood flow to the lungs including a dilated left main coronary artery to right pulmonary artery collateral, a patent ductus arteriosus to the left pulmonary artery, and multiple major aortopulmonary collateral arteries. This represents an extremely rare occurrence of coronary-pulmonary connections providing a major source of pulmonary blood flow in addition to normally seen major aortopulmonary collaterals. Detection of these various collateral pathways is important for surgical planning in such patients.
1) Transthoracic and transesophageal echocardiography are important modalities for assessing atrial septal defects (ASDs). TTE can identify RV volume overload and septal flattening, while TEE precisely measures defect size and evaluates rim morphology.
2) The four main types of ASDs - ostium secundum, ostium primum, sinus venosus, and coronary sinus defects - have distinguishing echo features. Doppler can demonstrate shunt direction and magnitude.
3) Echocardiography guides percutaneous ASD closure by assessing defect and rim anatomy, device sizing, and post-procedure result. Understanding echo features is key to ensuring procedure success.
VASCULAR RINGS AND SLINGS TYPES HAEMODYNAMICS PRESENTATION AND DIAGNOSIS.pptxJaydeep Malakar
Vascular rings are congenital anomalies where the aorta and its branches completely or incompletely encircle the trachea and esophagus. There are two main types - complete rings which fully encircle the airways and incomplete rings which partially encircle. Common types include double aortic arch, right aortic arch with retroesophageal vessels, and pulmonary artery sling. Clinical features include noisy breathing, cough, wheezing and recurrent respiratory infections in infants and children. Investigations include chest x-ray, CT, MRI and bronchoscopy to identify the specific ring and any tracheal compression. Surgical repair is usually indicated for symptomatic patients to prevent further airway damage.
This document provides an overview of fetal cardiac anomalies that can be identified on antenatal ultrasound. It describes the basic views used in fetal cardiac ultrasound examination and how to evaluate situs, laterality and orientation. It then discusses various types of septal defects, conotruncal anomalies, aortic arch anomalies and other conditions like hypoplastic left/right heart syndrome. Specific ultrasound findings that help identify ventricular septal defect, tetralogy of Fallot, transposition of great arteries and other anomalies are presented.
This document discusses anomalies of the fetal venous system. It begins with a classification system that expands on the four major embryonic venous systems (umbilical, vitelline, cardinal, pulmonary). It then reviews etiology and sonographic appearance of anomalies in these systems. Specifically it discusses heterotaxy syndromes affecting the cardinal veins, anomalies of the umbilical veins including agenesis of the ductus venosus and persistent right umbilical vein, and classification of these anomalies. Outcomes are discussed for different venous anomalies depending on associated malformations. Precise prenatal diagnosis of venous anomalies is possible using ultrasound.
Radiographic Presentation of Congenital Heart DiseaseTarique Ajij
1. The document discusses the radiographic presentation of various congenital heart diseases including atrial septal defects, ventricular septal defects, patent ductus arteriosus, atrioventricular septal defects, pulmonic stenosis, aortic stenosis, coarctation of the aorta, tetralogy of Fallot, Ebstein's anomaly, transposition of the great arteries, truncus arteriosus, and total anomalous pulmonary venous connection.
2. Key findings on chest x-rays are described such as enlargement of specific heart chambers, changes in pulmonary vascularity, positioning of the great vessels, and rib notching.
3. Diagnosis is made through precordial examination, echocard
This study analyzed 86 fetuses prenatally diagnosed with right aortic arch (RAA) without associated cardiac abnormalities. The study found rates of chromosomal abnormalities, 22q11.2 deletion, and fetal extracardiac anomalies to be 14.1%, 6.4%, and 17.4%, respectively. A systematic review and meta-analysis of 16 studies including this cohort, totaling 312 fetuses, estimated overall rates of chromosomal abnormalities and 22q11.2 deletion to be 9.0% and 6.1%, and lower rates of 4.6% and 5.1% for those without extracardiac anomalies. Nearly half (47.7%) of fetuses had a vascular ring formation. Most
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Fetal Vascular Rings: Beyond The Anomalies of The Aortic Arch
1. Annals of Clinical and Medical
Case Reports
Case Report
Fetal Vascular Rings: Beyond The Anomalies of The Aortic Arch
Vila J1
, Ferrer Q1, 2
, Albaiges G1
, Rodriguez MA1
, Rodriguez-Melcon A3
, Serra B3
, Prats P1, 3, *
1
Department of Obstetrics, Gynaecology and Reproduction, Instituto Universitario Dexeus, Barcelona
2
Department of Paediatric Cardiology, Hospital Vall d’Hebron, Barcelona
3
Department of Obstetrics, Gynaecology and Reproduction, Instituto Universitario Dexeus, Barcelona.
Volume 3 Issue 2- 2020
Received Date: 27 Feb 2020
Accepted Date: 18 Mar 2020
Published Date: 24 Mar 2020
2. Key words
Ductus Arteriosus (DA), Right Duc-
tus Arteriosus (RDA), Aberrant Right
Subclavian Artery (ARSA), Left Aortic
Arch (LAA), Sd.Di George.
1. Abstract
Different anomalies related to the inappropriate development of the ductus arteriosus or the
aortic arch have been described, in some cases accompanied with chromosomal or morpho-
logical anomalies, and also being able to form a vascular ring that can compromise the post-
natal life. For this reason, a complete fetal anatomy examination and cardiovascular study is
needed to discard possible other malformations or ultrasound markers for fetal syndromes. A
detailed prenatal diagnosis of the type of ductal arch anomaly and possible vascular ring can
give us a postnatal prognosis and help pediatricians with the management of symptomatic
neonates.
The abnormalities related to the position or branching of the ductal arch (ductus arteriosus)
are very uncommon. We describe the first case reported of prenatal diagnosis of right ductus
arteriosus, left aortic arch and aberrant right subclavian artery associated with 22q11 deletion.
3. Introduction
The fetalductus arteriosus (DA)is a vascular structure with func-
tional importance in the fetal circulation. It connects the Main
Pulmonary Artery (MPA) or its left branch to the aorta, diverting
blood flow apart from the pulmonary vascular bed to the systemic
circulation.
In the model of embryonic vascular development, six pairs of aor-
tic arches communicate the ventral and dorsal aortas. The ductus
arteriosus arisesfrom the sixth aortic arch. In a normally developed
heart, the normal branching of the left aortic arch is, from right to
left: brachiocephalic trunk (rising right common carotid and right
subclavian), left common carotid and left subclavian artery [1]. In
normal cardiac development, both right aortic and ductal arches
regress at 4-7 gestational weeks [2] (Figure 1).
Different anomalies related to theinappropriate development of the
aortic and ductal arches have been described, with a prevalence of
1-2% [3,4]. Arch anomalies refer to a variety of congenital abnor-
malities that are related to the position or branching of the aortic
and/or ductal arches. Aortic arch anomalies are most common.
However, other uncommon abnormalities of position/branching
of the ductal arch may occur (right or double DA, unusual, tortu-
ous or S-shaped ductus). Scarce data is published in the literature
about right ductus arteriosus (RDA)[2-15]. Most of the papers de-
scribe RDA associated to Right Aortic Arch (RAA) or in the con-
text of Congenital Heart Disease (CHD)[2]. The aim of this study is
to report a new case of an uncommon type of RDA with Left Aortic
Arch (LAA) without a major CHD and to review the literature.
Figure 1: Hypothetical double aortic arch model of Jesse E.Edwards. Ao,
ascending (ventral) aorta; DA, descending (dorsal)aorta; T, trachea; E, esophagus;
LAA, left aortic arch; LC, left commoncarotid artery; LPA, left pulmonary artery;
LS, left subclavianartery; P, main pulmonary artery; RAA, right aortic arch; RC,
rightcommon carotid artery; RPA, right pulmonary artery; RS, rightsubclavian
artery.
*Corresponding Author (s): Pilar Prats Rodríguez, Department of Obstetrics, Instituto Universi-
tario Dexeus, Barcelona, E-mail: pilpra@dexeus.com
http://www.acmcasereport.com/
Citation: Prats P, Fetal Vascular Rings: Beyond The Anomalies of The Aortic Arch. Annals of Clinical and
Medical Case Reports. 2020; 3(1): 1-5.
3. ferent combinations might occur: RAA with left ductus arteriosus
(LDA), RAA with RDA, double aortic arch or LAA with RDA, as
in our case. In the cases of RDA with LAA, 3VT view is completely
abnormal. RDA with RAA, however, needs more attention and it
could be easily overlooked: RAA with RDA form a V-shaped con-
figuration like the normal fetal anatomy, but on the right side of
the trachea [13].
3D/4D ultrasound can be very useful for a more precise diagnosis
in case of vascular rings. In this case, 4D clarified the relationship
between the vascular structures (Figures 4, Figures 5).
In addition, a complete fetal anatomy examination is needed to
discard other malformations or ultrasound markers for fetal syn-
dromes.
RDA with LAA is a very uncommon anomaly. We could find no
reference to it in the main prenatal diagnosis textbooks and we
found only 3 reports about RDA and LAA in the on line literature
(Table 1). The lack of literature might be due to the rarity of this
anomaly and also to the difficulty of its diagnose. A few more re-
ports describe the association of RDA with RAA [2,13] diagnosed
prenatally. All cases of RDA in pediatric literature are associated
to other cardiac malformations [5, 8]. Despite of the limited liter-
ature, we would suspect that most cases of RDA are isolated, and
remain undetected. We believe this because RDA is diagnosed after
delivery only when it remains patent, and this occurs manly in as-
sociation with CHD or other pathologic states.
To our knowledge this is the first case of prenatal diagnosis of RDA,
LAA and ARSA associated with 22q11 deletion. DiGeorge Syn-
drome is associated with anomalies of the cardiac outflow tracts.
In this case, DA was displaced to the right. Classically the anoma-
lies of the aortic arch are associated with congenital heart defects,
chromosomal anomalies, especially trisomy 21 or deletion 22q11
[20,21], but DA abnormalities are seldom mentioned.
In our case, the child had mild symptoms of compression after de-
livery but surgery was no needed. There isno consensus between
pediatricians an obstetricianregardingesophagus or trachea com-
pression symptoms. According to prenatal series most of the vas-
cular rings are asymptomatic after delivery, with the exception of
DAA and some cases of RAA with ARSA [22,23]. However, pe-
diatricians report that between 30 and 60% of cases of anomalies
in aortic arch and ARSA can cause obstructive symptoms due to
an extrinsic compression of the esophagus and trachea [24,25].
It is described significant tracheal compression in asymptomatic
infants with a RAA and left DA, considering an early airway in-
vestigation even in this type of patients[26]. Another sign recently
described that should be taken into account is the high incidence
of progressive stenos is in aberrant left sub clavian artery (ALSA)
with RAA in asymptomatic newborns [27]. In our case, the RDA
was associated to an ARSA that might worsen the prognosis.
6. Conclusion
In conclusion, ductal abnormalities are uncommon in prenatal life.
Prenatal diagnosis of RDA is feasible and its diagnosis provides
several benefits. Making a detailed prenatal diagnosis of the type
of ductal arch anomaly and possible vascular ring can give us a
postnatal prognosis and help pediatricians with the management
of symptomatic neonates. Arch anomalies, aortic or ductal, can be
either isolated or associated to other anomalies, commonly con-
genital heart diseases, and chromosomal abnormalities, including
Figure 3: Transversal thoracic view, upper mediastinum using STIC technique:
left aortic arch forming a complete vascular ring with the right ductal arch (cross
ribbon sign). Ao, aorta; t, trachea; da, descending aorta; rda, right ductus arteriosus.
Figure 5: Transversal thoracic view, upper mediastinum: Bifurcation of the
pulmonary artery, with the formation of the right DA originating in the right
pulmonary artery and ending in the aortic isthmus. DA, descending aorta; RDA,
right ductus arteriosus; PA-rt, right pulmonary artery; lt-PA, left pulmonary artery;
r, right; l, left.
Volume 3 Issue 1 -2020 Case Report
http://www.acmcasereport.com/ 3
4. 22q11 deletion, as in our case. Based on this association invasive
testing should be highly considered prenatally.
7. Aknowledgements
Under the auspices of the Càtedra d’ Investigacióen Obstetríciai
Ginecologia de la Universitat Autònoma de Barcelona.
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