Interruption Of The Aortic Arch Research Articles

Apport du scanner cardiaque dans la prise en charge des cardiopathies congénitales : expérience de l'institut de cardiologie d'Abidjan à propos de 27 cas

Introduction and objectivesIn contrast to developed countries, cardiac CT is not widely used in West Africa for the assessment of congenital heart disease, and has only recently been introduced in Côte d'Ivoire. The lack of data prompted this study, the aim of which was to describe our experience of the contribution of CT to the management of congenital heart disease in the Ivorian cardiology setting. Patients and methodThis was a prospective study which took place in the pediatric cardiology department over a period of 9 months (September 2022 to June 2023) which included all patients with congenital heart disease explored by echocardiography and cardiac scan. ResultsThe average age was 5.7 ± 4.7 years with extremes of 5 months and 16 years. We noted a female predominance with a sex ratio of 0.52. The main heart diseases were: tetralogy of Fallot (37.1%), followed by pulmonary atresia with open septum (18.52%). The assessment of the anatomy of the pulmonary arteries (81.48%), the search for aortopulmonary collaterals (59.63%) and finally the assessment of the anatomy of the aorta (18.52%) were the main indications. The practice of cardiac CT scanning has enabled better accuracy in the diagnosis and management of congenital heart disease in several cases: an interruption of the aortic arch was found in 1 case initially suspected of hypoplasia of the aortic arch, three cases of partial abnormal pulmonary venous return and one case of total abnormal pulmonary venous return. Also, agenesis of the left pulmonary artery with birth anomaly of the right coronary artery in the assessment of tetralogy of Fallot was found in 1 case. The CT scan made it possible to specify the exact topography of the aortopulmonary collaterals in four cases of pulmonary atresia with an open septum. ConclusionCT has enabled better visualization of the arterial and venous pulmonary tree, identification and exact localization of aorto-pulmonary collaterals, precise description of the three-dimensional anatomy of the coronary arteries, and better precision of congenital anomalies of the aorta.

Morphogenetic processes in the development and evolution of the arteries of the pharyngeal arches: their relations to congenital cardiovascular malformations.

The heart and aortic arch arteries in amniotes form a double circulation, taking oxygenated blood from the heart to the body and deoxygenated blood to the lungs. These major vessels are formed in embryonic development from a series of paired and symmetrical arteries that undergo a complex remodelling process to form the asymmetric arch arteries in the adult. These embryonic arteries form in the pharyngeal arches, which are symmetrical bulges on the lateral surface of the head. The pharyngeal arches, and their associated arteries, are found in all classes of vertebrates, but the number varies, typically with the number of arches reducing through evolution. For example, jawed vertebrates have six pairs of pharyngeal arch arteries but amniotes, a clade of tetrapod vertebrates, have five pairs. This had led to the unusual numbering system attributed to each of the pharyngeal arch arteries in amniotes (1, 2, 3, 4, and 6). We, therefore, propose that these instead be given names to reflect the vessel: mandibular (1st), hyoid (2nd), carotid (3rd), aortic (4th) and pulmonary (most caudal). Aberrant arch artery formation or remodelling leads to life-threatening congenital cardiovascular malformations, such as interruption of the aortic arch, cervical origin of arteries, and vascular rings. We discuss why an alleged fifth arch artery has erroneously been used to interpret congenital cardiac lesions, which are better explained as abnormal collateral channels, or remodelling of the aortic sac.

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.

Interruption of the aortic arch (IAA) is a rare but life-threatening congenital heart defect if not corrected in the neonatal period. IAA type B is highly correlated with 22q11.2 deletion syndrome (22q11.2DS); approximately 50% of patients with IAA type B also have 22q11.2DS (Peyvandi et al.; Goldmuntz et al.). Early identification and repair of IAA can prevent severe morbidity and death. However, IAA is challenging to identify prenatally, or even in the neonatal period. In this study, we examined infants with IAA, diagnosed during pregnancy and prior to discharge (PPTD) from the birth hospital vs. those diagnosed following discharge (FD) from the newborn nursery. Our goals were to determine: (1) if early diagnosis improved outcomes; and (2) if patients with IAA and without 22q11.2DS had similar outcomes. In total, 135 patients with a diagnosis of 22q11.2DS and IAA were ascertained through the 22q and You Center at the Children's Hospital of Philadelphia (CHOP). The examined outcomes included: timing of diagnosis; age at diagnosis (days); hospital length of stay (LOS); duration of intensive care unit (ICU) stay; mechanical ventilation (days); duration of inotrope administration (days); year of surgical intervention; birth hospital trauma level; and overall morbidity. These outcomes were then compared with 40 CHOP patients with IAA but without 22q11.2DS. The results revealed that the PPTD neonates had fewer days of intubation, inotrope administration, and hospital LOS when compared to the FD group. The outcomes between deleted and non-deleted individuals with IAA differed significantly, in terms of the LOS (40 vs. 39 days) and time in ICU (28 vs. 24 days), respectively. These results support the early detection of 22q11.2DS via prenatal screening/diagnostics/newborn screening, as IAA can evade routine prenatal ultrasound and postnatal pulse oximetry. However, as previously reported in patients with 22q11.2DS and congenital heart disease (CHD), patients with 22q11.2DS tend to fare poorer compared to non-deleted neonates with IAA.

Aortopulmonary window, aortic arch interruption, and anomalous origin of the right pulmonary artery in a neonate with Goldenhar syndrome.

The combination of aortopulmonary window, interruption of the aortic arch, and anomalous origin of the right pulmonary artery from the ascending aorta is a rare and complex congenital cardiac malformation. Despite good prenatal care in our case, this cardiac anomaly was not detected prior to birth. Untreated infants who do not undergo surgical correction have a mortality rate of 70% in their first year, and 30% will die within the first 3 months of life.

Hypoxic Gas Therapy in Neonatology: Considerations in Practice.

Adequate oxygenation is essential for sick newborns. Each disease determines the target of oxygenation. Nevertheless, hyperoxia and hypoxia are related to adverse outcomes. Most studies related to this aspect have been conducted in preterm infants or term babies with pulmonary pathology. Congenital heart diseases may also require careful oxygenation control and management of oxygen supply. Presurgical stabilization of complex heart diseases (CHD) may be difficult, especially after the physiological decrease of pulmonary resistance, which generates pulmonary edema (due to overcirculation) and systemic hypoperfusion. Several strategies have been described to avoid this phenomenon, such as prostaglandin, vasodilators, inotropes, positive airway pressure, and even hypoxic mixture (inspired fraction of oxygen (FiO2) below 21%). The latter therapy is mainly used in single ventricular physiology heart diseases, such as the hypoplasic left heart syndrome (HLHS) or systemic ductus-dependent flow CHD (interruption of the aortic arch and coarctation of the aorta). Alveolar oxygen affects pulmonary vascular resistance modifying lung flow. This modification could help the stabilization during the presurgical period of complex CDH. Many centers use hypoxic therapy to avoid hypotension, metabolic acidosis, coronarycerebral ischemia, and liver, renal and intestinal injury. Despite the theoretical benefits, there are doubts about how tissue oxygen supply would change during hypoxic gas ventilation. It is worrisome that FiO2 < 21% causes a decrease in brain oxygenation, adding neurological injury as a complication to the already established disease of CHD and other not modifiable factors. Brain monitoring through near-infrared spectroscopy (NIRS) during hypoxic gas therapy is mandatory. Recent studies have shown that hypoxic gas ventilation therapy in patients with HLHS in the preoperative period decreases the ratio between systemic and pulmonary circulation (Qp/Qs) but does not improve regional oxygenation delivery. The use of hypoxic gas ventilation therapy continues to be controversial. It could be an option in some complex CHD, mainly HLHS.

PAX Genes in Cardiovascular Development.

The mammalian heart is a four-chambered organ with systemic and pulmonary circulations to deliver oxygenated blood to the body, and a tightly regulated genetic network exists to shape normal development of the heart and its associated major arteries. A key process during cardiovascular morphogenesis is the septation of the outflow tract which initially forms as a single vessel before separating into the aorta and pulmonary trunk. The outflow tract connects to the aortic arch arteries which are derived from the pharyngeal arch arteries. Congenital heart defects are a major cause of death and morbidity and are frequently associated with a failure to deliver oxygenated blood to the body. The Pax transcription factor family is characterised through their highly conserved paired box and DNA binding domains and are crucial in organogenesis, regulating the development of a wide range of cells, organs and tissues including the cardiovascular system. Studies altering the expression of these genes in murine models, notably Pax3 and Pax9, have found a range of cardiovascular patterning abnormalities such as interruption of the aortic arch and common arterial trunk. This suggests that these Pax genes play a crucial role in the regulatory networks governing cardiovascular development.

Morphogenesis of the Mammalian Aortic Arch Arteries.

The major vessels in mammals that take blood away from the heart and deliver it to the arms and the head take their origin from the aortic arch and are derived from the arteries formed within the embryonic pharyngeal arches. These pharyngeal arch arteries, initially symmetrical, form in a cranial to caudal sequence within the pharyngeal mesenchyme. They then undergo a complex process of remodeling to produce the asymmetrical brachiocephalic arteries as seen in the adult. A complex interaction between the tissues of the pharyngeal arches and the genes they express is required to ensure that arterial formation and remodeling is able to proceed normally. If this process is disrupted, life-threatening congenital cardiovascular malformations can occur, such as interruption of the aortic arch, isolation of individual arteries, or so-called vascular rings. Here, using state-of-the-art imaging techniques, we describe the morphogenesis of the arteries in humans and mice and the cardiovascular defects in the Tbx1 mutant mouse model. We provide details of the process of remodeling, clarifying also the morphogenesis of the external carotid artery and the so-called “migration” of the left subclavian artery.

Clinical and Post-Surgical Features and Outcomes in Post-Surgical Patients with Aortic arch Interruption at a Specialty Hospital in Bogotá Between 2006 and 2019. Retrospective Multivariable Analysis

Introduction. Interruption of the aortic arch due to absence of tissue between the ascending and descending portions of the aorta is a pathology of low incidence, yet it has a mortality rate of nearly 90% within the first year of life. Surgical intervention is aimed at re-establishing continuity of the vessel, as well as correcting associated lesions through closure of IVC or performing a pulmonary artery cerclage correction. The mortality is 18% to 42%. The survival rate is close to 73% at one month, 65% at one year and 63% at 3 years after surgery. Materials and Methods. Review of Cardiovascular Surgery database between 2006 and 2019, identifying patients who underwent surgery due to aortic arch interruption. Results. In the last 4 years, an institutional technique was introduced, using pericardium tissue for reconstruction and partial junction of the descending aorta with the arch through advancement of the arterial cannulae towards the brachiocephalic trunk and has been positively associated to brain protection. Since, results have improved: lower tissue traction, greater amplitude of the neoarch and better neurological outcomes have been achieved. The objective of this paper is to identify the most important factors that ultimately determine prognosis and survival of patients with these pathologies, as well as to describe results of the implemented technique. Discussion. Aortic arch surgery is considered to be highly complex. Results yielded in this research showed a high mortality within the first years, which decreased into a similar rate to that of medical literature. The main factors associated with complications identified were a late diagnosis and malnutrition. In addition, morbidity and mortality rates were similar to those reported worldwide.

Predictors of Left Ventricular Outflow Tract Obstruction After Conventional Repair for Patients with Interrupted Aortic Arch or Coarctation of the Aorta, Combined with Ventricular Septal Defect: A Single-Center Experience

Left ventricular outflow tract obstruction (LVOTO) affects survival and reoperation rates after surgical treatment of patients with interruption of the aortic arch (IAA) or coarctation of the aorta (CoA) with ventricular septal defect (VSD). The aim of the study was to determine predictors of LVOTO and to evaluate the relationship between aortic valve (AoV) morphology and the re-intervention rate. Retrospective review of patients, who underwent a conventional repair for IAA/CoA with VSD at a tertiary referral center between 1996 and 2017. The preoperative demographic data as well as pre- and post-operative echocardiographic parameters and re-interventions were reviewed. In the median follow-up of 8.3 years (range of 6.15–10.27) 5 patients (11.9%) from a total of 47 patients included in the study presented with a significant LVOTO. Four of them required reoperation after median period of 2.3 years (range of 0.3–7.9) after the initial surgery. Multivariable logistic regression identified AoV z-score (OR 0.44, p = 0.017) as predictor of LVOTO. The mean AoV z-score before the primary repair was significantly smaller in those with LVOTO as compared to those with unobstructed flow from the LV (− 3.58 ± 1.96 vs. − 1.44 ± 1.55; p = 0.0016). At 1-year follow-up, both groups showed an increase in the AoV z-score (p = 0.98). The re-intervention rate after primary repair (both surgical procedures and percutaneous interventions), either for LVOTO or reCoA, was higher in patients with AoV z-score ≤ − 3 (p = 0.007 vs. p = 0.46) and those, whose aortic annulus was less or equal than patient’s weight (kg) + 1.5 mm as compared to those with larger aortic annulus (p = 0.03 vs. p = 0.16). In patients after surgical treatment of IAA/CoA with VSD, the AoV z-score at diagnosis is a significant risk factor for reoperation for LVOTO. With age, AoV growth and z-score improvement is expected. Small AoV at diagnosis is correlated with increased rate of re-intervention for LVOTO and reCoA.

Interruption of the Aortic Arch in the Adult and FulminantMyocarditis: A Strange Presentation

53 years old female patient, who presented oppressive precordial pain, radiating to the neck and jaw, for which she went to the emergency room, where an ECG image of complete left bundle branch block was evidenced

Berry syndrome-a rare congenital cardiac anomaly.

Berry syndrome is a rare congenital cardiac anomaly, characterized by distal aortopulmonary window, hypoplasia or interruption of the aortic arch, intact ventricular septum, and aortic origin of the right pulmonary artery and patent ductus arteriosus. Anatomic depiction of each component is important for the diagnosis. Single-stage surgical repair is challenging but feasible with good survival outcomes. The available literature on this anomaly is limited. Hence, this paper aims at reviewing the literature on Berry syndrome.

Aortic dissection in a young male with isolated interrupted aortic arch: an unusual association

Interruption of the aortic arch (IAA) is a rare congenital anomaly which has been infrequently documented in the adult population. Aortic dissection (AD) is an emergency often presenting as acute chest pain and warranting urgent intervention. A 32-year-old male presented to Emergency Department with acute chest pain. Clinical examination revealed feeble pulses in bilateral lower limbs with a blood pressure difference between upper and lower limbs. Two-dimensional Echocardiography was suggestive of IAA with AD in the descending thoracic aorta. This was confirmed on computed tomography scan of the aorta which revealed complete interruption of the aortic arch distal to left subclavian artery along with the presence of an intimo-medial flap in descending thoracic aorta. A diagnosis of IAA with AD was made. The patient underwent an urgent aortic repair surgery following which he has been largely asymptomatic. A suspicion of AD should always be made in any patient presenting with acute onset chest pain radiating to the back along with accelerated hypertension/feeble pulses in extremity. Occurrence of AD in an adult with IAA is a distinct rarity and has been documented only thrice.

Importance of endothelial Hey1 expression for thoracic great vessel development and its distal enhancer for Notch-dependent endothelial transcription

Thoracic great vessels such as the aorta and subclavian arteries are formed through dynamic remodeling of embryonic pharyngeal arch arteries (PAAs). Previous work has shown that loss of a basic helix-loop-helix transcription factor Hey1 in mice causes abnormal fourth PAA development and lethal great vessel anomalies resembling congenital malformations in humans. However, how Hey1 mediates vascular formation remains unclear. In this study, we revealed that Hey1 in vascular endothelial cells, but not in smooth muscle cells, played essential roles for PAA development and great vessel morphogenesis in mouse embryos. Tek-Cre–mediated Hey1 deletion in endothelial cells affected endothelial tube formation and smooth muscle differentiation in embryonic fourth PAAs and resulted in interruption of the aortic arch and other great vessel malformations. Cell specificity and signal responsiveness of Hey1 expression were controlled through multiple cis-regulatory regions. We found two distal genomic regions that had enhancer activity in endothelial cells and in the pharyngeal epithelium and somites, respectively. The novel endothelial enhancer was conserved across species and was specific to large-caliber arteries. Its transcriptional activity was regulated by Notch signaling in vitro and in vivo, but not by ALK1 signaling and other transcription factors implicated in endothelial cell specificity. The distal endothelial enhancer was not essential for basal Hey1 expression in mouse embryos but may likely serve for Notch-dependent transcriptional control in endothelial cells together with the proximal regulatory region. These findings help in understanding the significance and regulation of endothelial Hey1 as a mediator of multiple signaling pathways in embryonic vascular formation.

A Case of Biventricular Repair with Damus-Kaye-Stansel (DKS) Take-Down after DKS Anastomosis for Interruption of the Aortic Arch and Ventricular Septal Defect with Subaortic Stenosis

A Case of Biventricular Repair with Damus-Kaye-Stansel (DKS) Take-Down after DKS Anastomosis for Interruption of the Aortic Arch and Ventricular Septal Defect with Subaortic Stenosis

Clinical audit of pre- and postnatal diagnostics of obstructive congenital left heart defects at the perinatal center (level III)

Aim. To compare the data of pre- and postnatal expert echocardiographic diagnostics of obstructive left heart defects (LHD) to identify a possible predictors and reasons for hypo- and overdiagnosis of this.Material and methods. A retrospective analysis of data from expert echocardiography of 194 fetuses and newborns with suspected obstructive LHD (coarctation of the aorta (CA), interruption of the aortic arch, aortic stenosis (AS), CA or interruption of the aortic arch with AS, hypoplastic left heart syndrome (HLHS)) was performed.Results. After birth, critical obstructive LHD was confirmed in 59,3% of newborns (115 out of 194): in cases of prenatally diagnosed CA — in 41% of children (42 out of 103); AS — in 67% (4 out of 6); CA with AS — in 65,9% (27 out of 41); HLHS — in 93,9% (39 out of 44); or interruption of the aortic arch with and without AS — in 100% (11 out of 11). After birth, the discrepancy in diagnoses of critical congenital heart defects was detected in 2 cases — obstructive LHD were not confirmed, but total anomalous pulmonary venous drainage (APVD) was detected. In children with a confirmed diagnosis of HLHS after birth, there was a hypodiagnosis of obstructive forms of APVD in three newborns.Conclusion. The probability of confirming a critical obstructive LHD after birth is higher, the more LHD were hypoplasized during intrauterine imaging. APVD may be “hemodynamically masked” as HLHS when prenatal echocardiography is performed. The combination of HLHS and obstructive forms of APVD can lead to HLHS “hemodynamic aggravation” due to an additional decrease in blood flow of left heart.

Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development.

The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches. Perturbation of the gene regulatory networks in these tissues results in congenital heart defects affecting the arch arteries and the outflow tract of the heart. Aberrant development of these structures leads to interruption of the aortic arch and double outlet right ventricle, abnormalities that are a leading cause of morbidity in 22q11 Deletion Syndrome (DS) patients. We have recently shown that Pax9 functionally interacts with the 22q11DS gene Tbx1 in the pharyngeal endoderm for 4th pharyngeal arch artery morphogenesis, with double heterozygous mice dying at birth with interrupted aortic arch. Mice lacking Pax9 die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of Pax9, focussing on Gbx2 which is down-regulated in the pharyngeal endoderm of Pax9-null embryos. Here, we describe the Gbx2-null cardiovascular phenotype and demonstrate a genetic interaction between Gbx2 and Pax9 in the pharyngeal endoderm during cardiovascular development.

Echocardiographic and pathomorphological features in fetuses with ductal-dependent congenital heart diseases.

To individually analyze echocardiographic features in fetuses with ductal-dependent congenital heart diseases (DDCHD) and to verify the anatomical characteristics corresponding to the echocardiogram scan views. Ductal-dependent congenital heart diseases depends on the ductus arteriosus (DA) remaining open to maintain suitable pulmonary or systemic circulation after birth. An accurate diagnosis using prenatal echocardiography has important clinical significance in evaluating disease prognosis and ensuring timely treatment. Fetuses were followed in the prenatal and postpartum periods via echocardiography. The results of postpartum echocardiography or autopsy specimens were compared with the prenatal echocardiography findings. One hundred and eight fetuses displayed various types of DDCHD including 66 fetuses with ductal-dependent pulmonary circulation, and 42 fetuses with ductal-dependent systemic circulation. Prenatal echocardiography revealed the typical characteristics of no forward flow signal from right ventricular outflow tract to the pulmonary trunk proximally and a reverse flow in the DA in most fetuses for ductal-dependent pulmonary circulation, a reverse flow in the transverse aortic arch for aorta atresia, and a loss of continuity between aortic arch and descending aorta for interruption of the aortic arch (IAA). All 108 fetuses displayed various types of complex CHD, including right ventricular dysplasia with pulmonary atresia (PA), severe Ebstein anomaly, double outlet right ventricle with PA, tetralogy of fallot with PA, single ventricle with PA or aorta atresia, hypoplastic left heart syndrome, and IAA. The identification of reverse flow in the aortic arch or DA aids in the subsequent accurate diagnosis of DDCHD associated with complex malformation of the heart.

Native Aortic Arch Interruption in Adulthood: Surgical Management.

Aortic coarctations in adults are mainly represented by recurrent critical narrowing at the site of previous surgical correction, or less frequently by native forms of complex obstructive malformations of the distal arch and isthmus. We present our experience with an unusual form of native adult aortic coarctation presenting as a complete interruption of the aortic arch.

Surgical repair for common arterial trunk with pulmonary dominance, hypoplasia of ascending aorta, and interrupted aortic arch.

The arrangement of aortic and pulmonary pathways is extremely variable in the hearts with a common arterial trunk. Almost always, interruption of the aortic arch is seen in the setting of hypoplasia of the ascending aorta and dominance of the pulmonary circulation. This subset poses substantial challenges in surgical repair and portends poor outcomes. In this report, we briefly describe the technique of ascending aorta reconstruction and other aspects of the surgical repair of this rare malformation.

A new anatomic approach of the ventricular septal defect in the interruption of the aortic arch.

The aim of this study was to analyse the anatomy of the ventricular septal defect (VSD) in heart specimens with interruption of the aortic arch (IAA) in order to explore the hypothesis of different embryologic mechanisms for the different anatomic types of IAA. We examined 42 human heart specimens, 25 with IAA as the main disease with concordant atrioventricular and ventriculo-arterial connections and two distinct great arteries, and 17 hearts with IAA associated with other malformations [six common arterial trunk (CAT), five double-outlet right ventricle (DORV), three transposition of the great arteries (TGA), three atrioventricular septal defect (AVSD)]. The interruption was classified according to Celoria and Patton. We focused on the anatomy of the VSD viewed from the right ventricular side. There were 15 IAA type A, 27 type B, no type C. The VSD in IAA type B was always an outlet VSD, located between the two limbs of the septal band, with posterior malalignment of the outlet septum in hearts with concordant ventriculo-arterial connections, without any fibrous tricuspid-aortic continuity. In addition, the aortic arch was always completely absent. Conversely, the VSD in IAA type A could be of any type (outlet in six, muscular in four, central perimembranous in two, inlet in three) and the aortic arch was either atretic or absent. In addition, IAA type B, when found in the setting of another anomaly, was always associated with neural crest-related anomalies (CAT and DORV), whereas IAA type A was found in association with anomalies not related to the neural crest (TGA and AVSD). These results reinforce the hypothesis that different pathogenic mechanisms are responsible for the two types of IAA, and the inclusion of IAA type B in the group of neural crest defects. Conversely, IAA type A could be due to overlapping mechanisms: flow-related defect (coarctation-like) and neural crest contribution.