Aberrant left coronary artery from the pulmonary artery with patent ductus arteriosus - a case report and review of the literature.

BACKGROUND: Aberrant left coronary artery from pulmonary artery (ALCAPA) is a very rare congenital heart defect. Its coexistence with patent ductus arteriosus (PDA) is extremely rare. The high pressures created by the left-to-right shunt in the pulmonary arteries can delay symptoms and create a real challenge in diagnosing ALCAPA. Missing this diagnosis can have severe results, including extensive ischemia and sudden death. CASE PRESENTATION: We present a case of an infant born with a large PDA. Initially treated conservatively, however, due to congestive heart failure and lack of weight gain, she underwent surgical ligation of the PDA at the age of four and a half months. Following surgery, she developed pulmonary edema. Echocardiography revealed decreased ventricular function. ECG revealed ST elevations on lateral leads, and serum troponin was significantly increased. The patient underwent cardiac magnetic resonance imaging (MRI), which revealed signs of wall ischemia and decreased function of the left ventricle (LV) with unclear coronary anatomy. Diagnostic catheterization revealed an ALCAPA. She underwent surgical intervention, and the left coronary artery was re-implanted in the aortic sinus. Follow-up revealed slow improvement of cardiac function. DISCUSSION AND LITERATURE REVIEW: The coexistence of PDA and ALCAPA is a very rare occurrence. We found at least 10 reported cases in the literature. Delayed diagnosis might be detrimental. The prognosis of these patients is variable. CONCLUSION: An unusual post-surgical course following PDA repair requires a high index of suspicion and appropriate evaluation for ALCAPA, preferably with angiography.

ACR Appropriateness Criteria® Pulmonary Arteriovenous Malformation (PAVM): 2023 Update.

Pulmonary arteriovenous malformations (PAVMs) occur in 30% to 50% of patients with hereditary hemorrhagic telangiectasia. Clinical presentations vary from asymptomatic disease to complications resulting from the right to left shunting of blood through the PAVM such as paradoxical stroke, brain abscesses, hypoxemia, and cardiac failure. Radiology plays an important role both in the diagnosis and treatment of PAVM. Based on different clinical scenarios, the appropriate imaging study has been reviewed and is presented in this document. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

Clinical Presentation and Therapy of Truncus Arteriosus.

Truncus arteriosus (TA, also known as common arterial trunk) consists of only one great artery ("the truncus") with a semilunar valve (truncus valve) arising from the heart and an additional ventricular septal defect and (Fig. 50.1). This great artery is positioned above the ventricular septal defect and gives rise to the coronary arteries, the pulmonary arteries, and the aortic arch. Historically, TA has been classified by Collet and Edwards in three types, where in type I there was a common pulmonary artery truncus, in type II the left and right PA arise separately but close to each other, in type III both PA arise independently; in addition, there was a type IV that was later characterized as pulmonary atresia with VSD and major aortopulmonary collateral arteries arising from the descending aorta.

Endothelial-to-Mesenchymal Transition in an Hereditary Hemorrhagic Telangiectasia-like Pediatric Case of Multiple Pulmonary Arteriovenous Malformations.

Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies resulting in abnormal connections between pulmonary arteries and veins. In 80% of cases, PAVMs are present from birth, but clinical manifestations are rarely seen in childhood. These congenital malformations are typically associated with Hereditary Hemorrhagic Telangiectasia (HHT), a rare disease that affects 1 in 5000/8000 individuals. HHT disease is frequently caused by mutations in genes involved in the TGF-ß pathway. However, approximately 15% of patients do not have a genetic diagnosis and, among the genetically diagnosed, more than 33% do not meet the Curaçao criteria. This makes clinical diagnosis even more challenging in the pediatric age group. Here, we introduce an 8-year-old patient bearing a severe phenotype of multiple diffuse PAVMs caused by an unknown mutation which ended in lung transplantation. Phenotypically, the case under study follows a molecular pattern which is HHT-like. Therefore, molecular- biological and cellular-functional analyses have been performed in primary endothelial cells (ECs) isolated from the explanted lung. The findings revealed a loss of functionality in lung endothelial tissue and a stimulation of endothelial-to-mesenchymal transition. Understanding the molecular basis of this transition could potentially offer new therapeutic strategies to delay lung transplantation in severe cases.

Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.

Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler-Weber-Rendu syndrome.

Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.

Bridge to transplant in single-ventricle anatomy: subpulmonary support with EXCOR ventricular assist device associated with pulmonary artery reconstruction.

Patients with a single ventricle circulation continue to be a challenge for a heart transplant. The patients in this cohort, often in poor clinical condition with frequent hepatic and renal impairment having undergone previous multiple surgical procedures, are often allosensitive and consequently have an increased risk of post-transplant complications. Although the most recently published series results are improved, this group of patients, with preserved ventricular function, continues to have a higher mortality rate. Moreover, the operation can be complicated by anatomical differences among the pulmonary arteries. This case report presents a child with tricuspid atresia and pulmonary vascular resistance contraindicating Fontan surgery, unfavourable anatomy of the central pulmonary arteries and in poor clinical condition. An EXCOR ventricular assist device (Berlin Heart) was used for sub- pulmonary mechanical circulatory support and pulmonary bifurcation reconstruction, as a bridge to a transplant.

[Ischemic stroke due to paradoxical embolism through pulmonary arteriovenous malformation in a young patient]. / ACV isquémico debido a embolia paradojal a través de malformación arteriovenosa pulmonar en paciente joven.

Paradoxical embolism due to an isolated pulmonary arteriovenous malformation (PAVM) is a rare cause of ischemic stroke. PAVMs are abnormal high-flow connections between pulmonary arteries and veins, diverting deoxygenated blood into the systemic circulation and they represent a less common source of paradoxical embolisms, especially in young individuals. Endovascular embolization is the preferred treatment for clinically significant PAVMs. We present the case of a 34-year-old woman with a left thalamic ischemic stroke. Severe contrast passage was detected in cerebral arteries through transcranial Doppler. Intracardiac ultrasound did not reveal a patent foramen ovale, prompting further investigation with pulmonary CT angiography, confirming the presence of PAVM. The patient underwent successful endovascular treatment. It is essential to consider PAVM in the etiological diagnosis of ischemic stroke, especially in young patients with signs of abnormal right-to-left communication. Periodic follow-up imaging is recommended to assess potential recurrence or changes in PAVM, emphasizing the importance of appropriate management of these malformations.

La embolia paradojal debido a una malformación arteriovenosa pulmonar (MAVP) aislada es una causa infrecuente de accidente cerebrovascular (ACV) isquémico. Las MAVP son conductos anómalos de alta circulación entre arterias y venas pulmonares, desviando sangre desoxigenada hacia la circulación sistémica y representan una fuente menos común de embolias paradojales, especialmente en personas jóvenes. La embolización endovascular es el tratamiento preferido para MAVP clínicamente significativas. Presentamos el caso de una mujer de 34 años con ACV isquémico talámico izquierdo. Se detectó pasaje de burbujas "en cortina" en arterias cerebrales mediante Doppler transcraneal. En ecografía intracardíaca no se encontró foramen oval permeable, motivo por el cual se avanzó con realización de angiotomografía pulmonar, la cual confirmó la presencia de MAVP. La paciente recibió tratamiento endovascular exitoso. Es esencial considerar la MAVP en el diagnóstico etiológico del ACV isquémico, especialmente en pacientes jóvenes con signos de comunicación anormal de derecha a izquierda. Se recomienda un seguimiento periódico mediante imágenes para evaluar la posible recurrencia o cambios en la MAVP, resaltando la importancia del manejo adecuado de estas malformaciones.

Personalised stroke evaluation and management: tailoring individualised patient care for hereditary haemorrhagic telangiectasia.

SummaryHereditary haemorrhagic telangiectasia (HHT) has an estimated prevalence of 1 in 5000-8000 individuals globally with pulmonary arteriovenous malformations (PAVMs) affecting approximately 15%-50% of HHT patients. Ischaemic stroke is a known complication of PAVMs that affects ≤30% of patients with PAVMs. Studies have shown that patients with PAVMs have ischaemic stroke a decade earlier than routine stroke. The predominant mechanism of ischaemic stroke in HHT patients is paradoxical embolism due to PAVMs, but most HHT-related PAVMs are asymptomatic. Additionally, HHT is often underdiagnosed in patients and poses a challenge to physicians due to its rarity. We present a case of a patient with ischaemic stroke who was subsequently diagnosed with HHT and found to have a PAVM on further evaluation. This case highlights the importance of using an individualised patient-centred stroke evaluation and screening for PAVMs in patients who had a stroke with possible or suspected HHT and definite HHT.

Total Anomalous Pulmonary Venous Connection in Adults: Should We Offer Surgery?

Background: We aim to determine the surgical outcomes of adult patients with total anomalous pulmonary venous connection (TAPVC) and examine the regression of pulmonary artery (PA) pressures after the procedure. Methods: We reviewed the hospital records from 2003 to 2022 and identified 49 adult patients with TAPVC. We assessed their surgical outcomes and the trend of PA pressures after the procedure. Continuous data are presented as mean ± SD or median (interquartile range) and categorical variables are presented as percentages. Results: The median age of the patients was 23 years (range 18-42) and 31 (63.3%) were male. Thirty-six patients (73.5%) had supracardiac TAPVC. The mean systolic PA pressure was 65.8 ± 16.4 mm Hg and it decreased by 47.9% (34%, 61.8%) after surgery. Moderate or more tricuspid regurgitation was seen in 27 (55.1%) patients before surgery; however, it was present in only 3 (6.1%) patients during early follow-up. There was no intraoperative or 30-day mortality, and the median hospital length of stay was six days. Long-term follow-up data were available for 29 patients with the average duration of follow-up being 5.6 years (range 6 months to 15 years) and the mean systolic PA pressures of this cohort was 29.8±7.9 mm Hg. Forty-six (93.1%) patients were asymptomatic; four women had uneventful pregnancies and delivered healthy children. Conclusion: Surgical repair of the naturally selected group of adult TAPVC patients can be performed safely with good results. Regression in flow-related pulmonary hypertension and an improvement in functional quality of life are seen in nearly all patients.

NASCI case of the month: a case of anomalous right coronary artery arising from the pulmonary artery.

Coronary artery anomalies are rare but potentially fatal abnormalities with occasional striking imaging findings radiologists should recognize.

Fetal diagnosis and management of pulmonary artery sling: A case series.

OBJECTIVE: Pulmonary artery sling is a rare congenital anomaly accounting for 2% of all patients with vascular anomalies that cause airway obstruction. In the normal heart, the left (LPA) and right (RPA) pulmonary arteries arise in the intrapericardial space. However, in the pulmonary artery sling, the LPA trunk arises in the extrapericardial space from the posterior aspect of the mid RPA and courses posterior to the trachea causing tracheal compression and, at times, bronchial compression. While a full spectrum of congenital cardiac pathology can be identified before birth, only a few case reports document the prenatal diagnosis of an Left pulmonary artery sling (LPAS). METHOD: We retrospectively identified all cases of prenatal LPAS from three Canadian fetal cardiology centers (2015-2022). RESULTS: Using the 3-vessel-tracheal view via fetal echocardiography (FE), four fetuses from three pregnancies demonstrated abnormal origin of the LPA from RPA and echogenic trachea. In one of two affected monochorionic twins coronal imaging demonstrated a significant narrowing of the large airways consistent with significant airway obstruction. CONCLUSION: Prenatal detection of LPAS by FE is possible and should prompt an evaluation for airway obstruction in the coronal view. Investigating associated lesions and genetic testing are recommended for informed shared decision making.

[Contribution of cardiac CT in the management of congenital heart disease : experience of the Abidjan cardiology institute in 27 cases]. / 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 OBJECTIVES: In 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 METHOD: This 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. RESULTS: The 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. CONCLUSION: CT 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.