Peripheral Pulmonary Artery Research Articles

Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome.

Williams-Beuren syndrome (WBS) is a congenital multisystem disorder affecting the cardiovascular, central nervous, and musculoskeletal systems. Cardiovascular abnormalities, which consist principally of vascular stenoses, occur in approximately 80% of people with WBS and are the predominant cause of early morbidity and mortality. Supravalvar aortic stenosis and peripheral pulmonary artery stenosis are the most common stenotic lesions in WBS, though other stenoses often occur, including stenoses of the coronary arteries. Approximately one-third of people with WBS undergo cardiovascular interventions. The risk of sudden cardiac death is markedly higher than the general population, with most events occurring in the periprocedural period. Because of the rarity of WBS and the often-complex nature of the cardiovascular abnormalities, most physicians, including cardiologists, have limited experience in caring for patients with WBS. Further, heretofore, clinical cardiovascular management guidelines based on international expert consensus have not been available. This state-of-the-art review provides a comprehensive synopsis of the cardiovascular abnormalities in WBS and presents clinical management guidelines based on the authors' expert consensus.

CT Imaging Findings of Pulmonary Artery Stenosis: A Pictorial Review.

Pulmonary artery stenosis represents a group of disorders involving main, branch or peripheral pulmonary arteries with pain, dyspnea, hemoptysis or even no symptoms. Early diagnosis and timely intervention are crucial for reducing mortality, but timely diagnosis is challenging due to the non-specific symptoms. Computed tomography pulmonary angiography (CTPA) is useful in the diagnosis because it can provide more details about abnormal changes in the lumen, vessel wall and adjacent mediastinal structures. Congenital and acquired pulmonary artery anomalies have some characteristics on CTPA, which can be useful for differential diagnosis. Awareness of these conditions is important for radiologists. This pictorial review provides an overview of CTPA imaging features of pulmonary artery stenosis.

Prevalence and Clinical Characteristics of Heterozygous RNF213 p.Arg4810Lys Variant Carriers Diagnosed With Chronic Thromboembolic Pulmonary Hypertension.

Ring finger protein 213 (RNF213) p.Arg4810Lys is a susceptibility gene for moyamoya disease, peripheral pulmonary artery stenosis (PPS), and other vascular diseases and thrombosis. We investigated the prevalence and clinical characteristics of RNF213 variant carriers diagnosed with chronic thromboembolic pulmonary hypertension (CTEPH). We retrospectively analyzed the prevalence of the RNF213 p.Arg4810Lys variant in patients diagnosed with CTEPH (n=112) and PPS (n=10). Clinical and angiographic characteristics were evaluated between RNF213 variant carriers diagnosed with CTEPH and noncarriers with CTEPH and homozygous variant carriers with PPS. Eight heterozygous RNF213 p.Arg4810Lys variant carriers (7.1%) were identified among patients diagnosed with CTEPH, while 5 patients with PPS (50%) carried the homozygous variant. The clinical characteristics of heterozygous variant carriers with CTEPH were not remarkably different from those of noncarriers with CTEPH. All heterozygous variant carriers with CTEPH showed webs/bands lesions at the segmental/subsegmental level, with 75% showing distal tortuous vessels. None of the heterozygous variant carriers with CTEPH exhibited the string-of-beads pattern or elongated stenosis. Homozygous variant carriers with PPS showed the string-of-beads pattern, elongated stenosis, and distal tortuous vessels without webs/bands lesions. A subset of patients diagnosed with CTEPH (7.1%) carried the heterozygous RNF213 p.Arg4810Lys variant. Clinical and angiographic characteristics of heterozygous variant carriers were not remarkably different from those of noncarriers of CTEPH. However, both heterozygous variant carriers with CTEPH and homozygous variant carriers with PPS showed tortuous vessels on angiography.

Complex Pulmonary Artery Rehabilitation in Children with Alagille Syndrome: An Early Single-Center Experience of a Successful Collaborative Work.

Objective: In this paper, we share our single-center experience of successful multidisciplinary management of patients with Alagille syndrome. In addition, we aim to highlight the need for an Alagille program for effectively managing these patients, in general, and particularly peripheral pulmonary artery stenosis associated with this syndrome. Study Design: This is a retrospective review of six children with Alagille syndrome and advanced liver involvement who underwent pulmonary artery reconstruction between 2021 and 2022. Cardiac diagnosis, co-existing liver disease burdens, management approach, and short-term outcomes were analyzed. Results: All the patients underwent one-stage extensive bilateral branch pulmonary rehabilitation. Concomitant procedures included repair of tetralogy of Fallot in one patient and repair of supravalvar pulmonary artery stenosis in two. One patient had balloon pulmonary branch angioplasty before surgery. In all patients, there was a decrease in right ventricular systolic pressure post-operatively. Three patients underwent liver transplantation for pre-existing liver dysfunction. At a median 3-year follow-up, all the patients were alive with their right ventricular systolic pressure less than half of their systemic systolic pressure. One patient underwent balloon angioplasty due to new and recurrent left pulmonary artery stenosis 13 months after surgery. Conclusion: Pulmonary arteries can be successfully rehabilitated surgically in the presence of complex branch disease. Patients with advanced liver disease can undergo successful complex pulmonary artery reconstruction, which can facilitate their future liver transplantation course. A multidisciplinary team approach is a key for successful management of Alagille patients.

A probabilistic neural twin for treatment planning in peripheral pulmonary artery stenosis.

The substantial computational cost of high-fidelity models in numerical hemodynamics has, so far, relegated their use mainly to offline treatment planning. New breakthroughs in data-driven architectures and optimization techniques for fast surrogate modeling provide an exciting opportunity to overcome these limitations, enabling the use of such technology for time-critical decisions. We discuss an application to the repair of multiple stenosis in peripheral pulmonary artery disease through either transcatheter pulmonary artery rehabilitation or surgery, where it is of interest to achieve desired pressures and flows at specific locations in the pulmonary artery tree, while minimizing the risk for the patient. Since different degrees of success can be achieved in practice during treatment, we formulate the problem in probability, and solve it through a sample-based approach. We propose a new offline-online pipeline for probabilistic real-time treatment planning which combines offline assimilation of boundary conditions, model reduction, and training dataset generation with online estimation of marginal probabilities, possibly conditioned on the degree of augmentation observed in already repaired lesions. Moreover, we propose a new approach for the parametrization of arbitrarily shaped vascular repairs through iterative corrections of a zero-dimensional approximant. We demonstrate this pipeline for a diseased model of the pulmonary artery tree available through the Vascular Model Repository.

Effect of epoprostenol-induced thrombocytopaenia on lung transplantation for pulmonary arterial hypertension.

Preoperative intravenous epoprostenol therapy can cause thrombocytopaenia, which may increase the risk of perioperative bleeding during lung transplantation. This study aimed to determine whether lung transplantation can be safely performed in patients with epoprostenol-induced thrombocytopaenia. From June 2008 to July 2022, we performed 37 lung transplants in patients with pulmonary arterial hypertension (PAH), including idiopathic PAH (n = 26), congenital heart disease-associated PAH (n = 7), pulmonary veno-occlusive disease (n = 3) and peripheral pulmonary artery stenosis (n = 1) at our institution. Of these, 26 patients received intravenous epoprostenol therapy (EPO group), whereas 11 patients were treated with no epoprostenol (no-EPO group). We retrospectively analysed the preoperative and postoperative platelet counts and post-transplant outcomes in each group. Preoperative platelet counts were relatively lower in the EPO group than in the no-EPO group (median EPO: 127000 vs no-EPO: 176000/μl). However, blood loss during surgery was similar between the 2 groups (EPO: 2473 ml vs no-EPO: 2615 ml). The platelet counts significantly increased over 1 month after surgery, and both groups showed similar platelet counts (EPO: 298000 vs no-EPO: 284000/μl). In-hospital mortality (EPO: 3.9% vs no-EPO: 18.2%) and the 3-year survival rate (EPO: 91.4% vs no-EPO: 80.8%) were similar between the 2 groups. Patients with PAH treated with intravenous epoprostenol showed relatively lower platelet counts, which improved after lung transplantation with good post-transplant outcomes.

Flow pattern analysis of right ventricular outflow tract in repaired tetralogy of Fallot through 4D flow MRI.

Cardiac magnetic resonance imaging (CMR) often shows discrepancies between right ventricular outflow tract (RVOT) flow and left ventricular outflow tract flow in patients with late-stage repaired tetralogy of Fallot (rTOF), leading to potential errors in pulmonary regurgitation fraction (PRF) assessment. This study aimed to identify the conditions under which RVOT flow can be acutely evaluated using four-dimensional (4D) flow CMR. Twenty-seven consecutive patients with rTOF underwent both two-dimensional phase-contrast (2D PC) and 4D flow CMR between 2016 and 2018, excluding those with peripheral pulmonary artery stenosis, RVOT conduit replacement, unknown surgical method, and an aortic valve regurgitation greater than 20%. Seven healthy controls also underwent only 4D Flow CMR. All healthy controls and fifteen patients with rTOF showed laminar RVOT flow, while seven patients exhibited helical, and four patients exhibited vortical RVOT flow in 4D flow CMR visualization. Flow-volume concordance between the pulmonary artery and aortic flow was significantly lower in patients with rTOF and PRF > 40% in 2D PC CMR. This concordance rate in the suprapulmonary valve was high in both the TOF and control groups, comparing at five RVOT locations in 4D flow CMR. Regarding RVOT flow regurgitation in 4D flow, the whole bulk evaluation exhibited greater variation depending on the flow type compared to the whole pixel-wise evaluation. The study confirmed the flow volume at the upper section of the pulmonary valve as the most accurate correlate of aortic flow volume. Furthermore, the 4D flow CMR using the pixel-wise method demonstrated superior accuracy compared to the traditional bulk flow method.

Simple and secure thrombectomy without circulatory arrest for acute pulmonary embolism

BackgroundSurgical pulmonary artery thrombectomy is a well-established emergency treatment for massive pulmonary embolism (PE) in which fibrinolysis or thrombolysis are not effective. However, surgery for massive PE that requires peripheral pulmonary artery thrombus removal remains challenging. We established a simple and secure pulmonary artery thrombectomy method using cardiopulmonary bypass and cardiac arrest. In this procedure, the surgical assistant arm, typically used for coronary artery bypass grafting, is used to obtain a feasible working space during thrombectomy.Case presentationWe present seven consecutive massive PE cases that were treated with the present surgical method and successfully weaned from cardiopulmonary bypass or extracorporeal membrane oxygenation postoperatively.ConclusionsThis procedure can be used to prevent right ventricular failure after surgery as surgeons can remove the peripheral thrombus with clear vision up to the second branch of the pulmonary artery.

Peripheral Pulmonary Artery Stenosis (PPAS) Mimicking Chronic Thromboembolic Pulmonary Hypertension (CTEPH) in SAPHO Syndrome: A Case Report and Review of the Literature

Peripheral Pulmonary Artery Stenosis (PPAS) Mimicking Chronic Thromboembolic Pulmonary Hypertension (CTEPH) in SAPHO Syndrome: A Case Report and Review of the Literature

Adult-onset idiopathic peripheral pulmonary artery stenosis.

Peripheral pulmonary artery stenosis (PPS) refers to stenosis of the pulmonary artery from the trunk to the peripheral arteries. Although paediatric PPS is well described, the clinical characteristics of adult-onset idiopathic PPS have not been established. Our objectives in this study were to characterise the disease profile of adult-onset PPS. We collected data in Japanese centres. This cohort included patients who underwent pulmonary angiography (PAG) and excluded patients with chronic thromboembolic pulmonary hypertension or Takayasu arteritis. Patient backgrounds, right heart catheterisation (RHC) findings, imaging findings and treatment profiles were collected. 44 patients (median (interquartile range) age 39 (29-57) years; 29 females (65.9%)) with PPS were enrolled from 20 centres. In PAG, stenosis of segmental and peripheral pulmonary arteries was observed in 41 (93.2%) and 36 patients (81.8%), respectively. 35 patients (79.5%) received medications approved for pulmonary arterial hypertension (PAH) and 22 patients (50.0%) received combination therapy. 25 patients (56.8%) underwent transcatheter pulmonary angioplasty. RHC data showed improvements in both mean pulmonary arterial pressure (44 versus 40 mmHg; p<0.001) and pulmonary vascular resistance (760 versus 514 dyn·s·cm-5; p<0.001) from baseline to final follow-up. The 3-, 5- and 10-year survival rates of patients with PPS were 97.5% (95% CI 83.5-99.6%), 89.0% (95% CI 68.9-96.4%) and 67.0% (95% CI 41.4-83.3%), respectively. In this study, patients with adult-onset idiopathic PPS presented with segmental and peripheral pulmonary artery stenosis. Although patients had severe pulmonary hypertension at baseline, they showed a favourable treatment response to PAH drugs combined with transcatheter pulmonary angioplasty.

Characteristics in patients with adult-onset idiopathic peripheral pulmonary artery stenosis

Abstract Background Peripheral pulmonary artery stenosis (PPS) refers to the obstruction of the pulmonary artery from the pulmonary artery trunk to the peripheral arteries. Although pediatric PPS is well described, the clinical characteristics of adult-onset idiopathic PPS have not been established. Purpose To establish the disease profile of adult-onset PPS, we characterized the clinical background, laboratory and imaging findings, treatment, and prognosis. Methods The nationwide survey in Japan, supported by the government, retrospectively collected clinical data on patients with idiopathic PPS from multiple centers. This cohort comprised individuals aged 15 years and above who had pulmonary arterial stenosis confirmed through pulmonary angiography, indeed patients with chronic thromboembolic pulmonary hypertension or Takayasu arteritis were excluded. Patient backgrounds, imaging findings, treatment profiles, right heart catheterization findings, and long-term prognosis were collected. A comparison was made between the data obtained from prior-treatment and post-treatment right heart catheterization. Results Forty-five patients (median age at diagnosis: 38 years [Q1–Q3:28–56]; 29 males [64.4%]) with idiopathic PPS were enrolled from 21 centers. The median period between diagnosis of PPS and the final follow-up was 60 months [Q1–Q3: 24–114 months]. Eight patients (17.8%) were associated with moyamoya disease. Pulmonary angiography was performed in all patients for a definite diagnosis, and stenosis of segmental and peripheral pulmonary arteries was observed in 41 (91.1%) and 36 patients (80.0%), respectively. Thirty-six patients (80.0%) received treatment with pulmonary arterial hypertension (PAH)-specific drugs, 23 patients (51.1%) received combination therapy, and 25 patients (55.6%) received transcatheter pulmonary angioplasty. Right heart catheterization data showed improvements in both the mean pulmonary artery pressure (46 vs. 41 mmHg; p&amp;lt;0.001) and pulmonary vascular resistance (738 vs. 506 dyn.s.cm-5; p&amp;lt;0.001) from baseline to the final follow-up. The 3-, 5-, and 10-year survival rates of patients with idiopathic PPS were 97.6% (95% confidence interval [CI]:83.9–99.7), 89.7% [95% CI:69.9–96.6), and 68.6% (95% CI:43.9–84.2), respectively. Conclusion In this study, the patients with adult-onset idiopathic PPS presented with segmental and peripheral pulmonary artery stenosis. Although patients had severe pulmonary hypertension at baseline, they showed a favorable treatment response to the PAH-specific drugs combined with transcatheter pulmonary angioplasty.

A Bioinformatic Algorithm based on Pulmonary Endoarterial Biopsy for Targeted Pulmonary Arterial Hypertension Therapy.

Optimal pharmacological therapy for pulmonary arterial hypertension (PAH) remains unclear, as pathophysiological heterogeneity may affect therapeutic outcomes. A ranking methodology based on pulmonary vascular genetic expression analysis could assist in medication selection and potentially lead to improved prognosis. To describe a bioinformatics approach for ranking currently approved pulmonary arterial antihypertensive agents based on gene expression data derived from percutaneous endoarterial biopsies in an animal model of pulmonary hypertension. We created a chronic PAH model in Micro Yucatan female swine by surgical anastomosis of the left pulmonary artery to the descending aorta. A baseline catheterization, angiography and pulmonary endoarterial biopsy were performed. We obtained pulmonary vascular biopsy samples by passing a biopsy catheter through a long 8 French sheath, introduced via the carotid artery, into 2- to 3-mm peripheral pulmonary arteries. Serial procedures were performed on days 7, 21, 60, and 180 after surgical anastomosis. RNA microarray studies were performed on the biopsy samples. Utilizing the medical literature, we developed a list of PAH therapeutic agents, along with a tabulation of genes affected by these agents. The effect on gene expression from pharmacogenomic interactions was used to rank PAH medications at each time point. The ranking process allowed the identification of a theoretical optimum three-medication regimen. We describe a new potential paradigm in the therapy for PAH, which would include endoarterial biopsy, molecular analysis and tailored pharmacological therapy for patients with PAH.

1226 The Role of Extracorporeal Membrane Oxygenation in William’s Syndrome Following Cardiac Surgery: A Case Report

Abstract Williams-Beuren Syndrome (WS) is a genetic syndrome seen in childhood, characterised by intellectual disabilities, outgoing personalities, elfin-like faces and cardiovascular complications. We report the story of a girl with WS who underwent complex cardiac surgery requiring extracorporeal membrane oxygenation (ECMO), to raise awareness of the perioperative challenges with WS. At 2 years old, a cardiac murmur was incidentally discovered. Further investigations revealed WS with cardiac manifestations including peripheral pulmonary artery stenosis (PPAS) and supravalvular aortic stenosis (SVAS). Isolated SVAS repair was feasible, however the severity of pulmonary artery hypoplasia deemed her inoperable. Her care was redirected to palliation. 18 months later, she remained in good clinical condition which prompted the multidisciplinary team (MDT) to change their decision and proceed with complex SVAS repair surgery (Brom technique) at the age of 5. Postoperatively, 3 failed attempts to wean from cardiopulmonary bypass preceded veno-arterial ECMO, which lasted 7 days. She stayed in intensive care for 17 days, and in hospital for 28 days. Frequent MDT decision making was crucial during her complex care. The patient is currently 15 years old, in good clinical condition, albeit exercise restrictions. WS patients have a known increased risk of perioperative sudden cardiac death and increasing use of paediatric ECMO, hence great attention and thorough preparation is required. Clear perioperative care guidelines for WS are essential to secure good outcomes in this patient population. This case demonstrated that MDT involvement and regular communication with the patient were key to deliver the appropriate care throughout her life.

Microscopic feature of lymph node anthracosilicosis adherent with pulmonary artery: a case report

BackgroundAlthough thoracic surgeons occasionally encounter dense adhesions of interlobar lymph node anthracosilicosis with the pulmonary artery, adhesiolysis may be challenging. Besides, characteristic microscopic features of the adherent lesion remain limited.Case presentationDuring a thoracoscopic right upper lobectomy of a patient with stage IA3 primary lung adenocarcinoma, several interlobar lymph nodes adhered to the posterior ascending branch of the pulmonary artery to the right upper lobe were noted. After an unplanned conversion to a thoracotomy to avoid massive bleeding, the pulmonary artery branch was safely isolated. Microscopic examination revealed lymph node anthracosilicosis proximal to the peripheral pulmonary artery wall, with granulomatous inflammation. The adventitial stroma of the pulmonary artery developed into dense and borderless fibrous tissue with dust-laden macrophages.ConclusionsOur pathological findings on lymph node anthracosilicosis provide substantial evidence that adhesions between lymph nodes and the pulmonary artery walls may develop into dense and borderless fibrous tissue. This finding would remind thoracic surgeons that adhesiolysis could cause injury to the pulmonary artery.

Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects.

Although pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between the two conditions. Segmental PH is a unique pediatric subtype of PH with unclear and/or multifactorial pathophysiological mechanisms, and is often associated with complex congenital heart disease (CHD), pulmonary atresia with ventricular septal defect, and aortopulmonary collateral arteries. Some cases of complex CHD, associated with a single ventricle after Fontan operation, show pathological changes in the small peripheral pulmonary arteries and pulmonary vascular resistance similar to those observed in pulmonary arterial hypertension (PAH). This condition is termed as the pediatric pulmonary hypertensive vascular disease (PPHVD). Recent advances in genetics have identified the genes responsible for PAH associated with developmental defects of the heart and lungs, such as TBX4 and SOX17. Targeted therapies for PAH have been developed; however, their effects on PH associated with developmental heart and lung defects remain to be established. Real-world data analyses on the anatomy, pathophysiology, genetics, and molecular biology of unique PPHVD cases associated with developmental defects of the heart and lungs, using nationwide and/or international registries, should be conducted in order to improve the treatments and prognosis of patients with these types of pediatric PH.

Differential diagnosis of neonatal cholestasis by genetic testing: A case report

Alagille syndrome (ALGS) is a cholestasis disorder with multiple organ dysfunction, including heart and kidney. The causative genes of ALGS are JAG1 and NOTCH2. Dysregulation of Notch signaling leads to defects in the developmental mechanisms of the bile ducts. Sometimes extrahepatic bile duct hypoplasia makes it difficult to differentiate ALGS from biliary atresia. The Kasai procedure for ALGS is associated with poor liver and patient outcomes. Therefore, it is important to differentiate ALGS from biliary atresia correctly. A 2-day-old female neonate was admitted to the neonatal intensive care unit due to poor feeding; blood tests on day 7 showed elevated direct bilirubin and total bile acids. Right hydronephrosis, peripheral pulmonary artery stenosis, butterfly vertebra, and posterior embryotoxon were observed, and ALGS was suspected from these findings. Duodenal fluid tests and biliary scintigraphy showed no bile excretion from the liver into the intestinal tract. These findings suggested biliary atresia, and to distinguish ALGS from biliary atresia, rapid JAG1 and NOTCH2 sequencing was performed preoperatively. We found a heterozygous de novo single nucleotide insertion mutation c.192dupC p.(Lys65GlnfsX8). Operative cholangiography showed that the common bile duct was patent, but the common hepatic duct was barely open, a finding consistent with type III-a-o biliary atresia. Because of the preoperative diagnosis of ALGS, Kasai procedure was omitted. Neonates and early infants with cholestasis with extrahepatic symptoms should be carefully examined, with genetic syndromes and biliary atresia considered differential diagnoses. Advances in genetic analysis methods are expected to facilitate early diagnosis of ALGS.

The Role of CT Angiography Above Echocardiography in Evaluations of Congenital Heart Disease in TCH (2013-2018)

Back ground: Congenital heart disease (CHD) one of the most commonly occurring congenital anomaly, affecting 4-10/1000 live births, Echocardiography is the mainstay of diagnosis, the recent developments in CT techniques increasing role of CT in the evaluation of congenital heart disease that minimize the radiation exposure particularly for children. Objective: This study is performed to assess and high light the role of multi-detector computed tomography (CT angiography) in the evaluation of cardiovascular abnormalities as (Cono- truncal defects) in children and the Clinical indications above trans-thoracic echocardiography. Method: This study included 70 patients, they were referred or following in pediatric cardiology clinic at TCH from January 2013 till October 2018. All patients presented with history or clinical suspicion of Cono- truncal defect were included in the study, for all patient's full history and clinical examination were obtained. An echocardiography examination was done. CT angiography was performed by Philips machine (16 segment). Results: Pulmonary anomalies represent the majority of detected congenital defects in our study, represent 37 cases (53 %) and the commonest pulmonary anomaly is pulmonary stenosis. The majority of patient shows the same finding in echocardiography &amp; CT angiography which represent 47 cases (67.1%), while in 12 cases (17%) CT angiography add more details in regards to the size of the great vessels and the peripheral structure (peripheral pulmonary arteries), while CT angiography rule-out the echocardiography finding in only 11 cases (15 %). Out of 23 cases of patients with Aortic anomaly, 19 cases (82.6%) have the same finding in echocardiography while in 3 cases (13%) the result of CT rolled out the echo finding, and 29 (78.4%) cases out of 37 cases with pulmonary anomalies have same finding in both echocardiography and CT angiography. Conclusion: We conclude that CT angiography is considered a non-invasive diagnostic tool complementary to the cardiac echocardiography in the diagnosis of complex heart defects especially in pulmonary anomalies. Recommendation: Similar study need to be conducted with large sample to confirm the extent of this finding.

Retroaortic Innominate Vein in Association With Pulmonary Atresia/Major Aortopulmonary Collaterals

BackgroundRetroaortic innominate vein (RAIV) is an extremely rare anomaly of systemic venous return. The prevalence of RAIV has been estimated to be 0.02% in individuals without congenital heart disease and 0.5% in those with congenital heart disease. Previous studies have demonstrated an association between RAIV and both conotruncal abnormalities and right aortic arch. Our center specializes in surgical procedures for patients with pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (PA/VSD/MAPCAs), and we have frequently observed the presence of RAIV in these patients. The purpose of this study was to evaluate the prevalence and anatomic characteristics of RAIV. MethodsThis was a single-center retrospective review of medical records to identify patients with an RAIV. The study period was 2002 through 2022, with approximately 20,000 patients evaluated during this time frame. ResultsA total of 99 patients were identified with an RAIV. Of the 99 patients, 64 (65%) had PA/VSD/MAPCAs. Other diagnoses included tetralogy of Fallot (n = 16), tetralogy of Fallot with pulmonary atresia (n = 3), double outlet right ventricle (n = 4), peripheral pulmonary artery stenosis (n = 3), and other (n = 9). In the cohort of patients with PA/VSD/MAPCAs, 69% had a right aortic arch and 30% had completely absent central pulmonary arteries. ConclusionsThe overwhelming majority (90%) of patients with RAIV had conotruncal abnormalities, with PA/VSD/MAPCAs accounting for the preponderance of cases in our center.

A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.

Williams syndrome is caused by a microdeletion at 7q11.23 and is characterized by a distinctive face, cardiovascular disease, and intellectual disability with a specific cognitive and behavioral profile. This study aims to evaluate the clinical features and obtain important information that can guide early diagnoses and correct follow-up. The study included 78 patients whose diagnoses were confirmed by fluorescent in situ hybridization. Facial features, anthropometric measurements, and neurocognitive, endocrine, and urinary system evaluations were obtained from the medical records, and photographs of the patients were evaluated retrospectively. The most common complaints at admission were cardiovascular disease and atypical face. The mean age at admission was 39 ± 4.8 months. The mean age of patients presenting with atypical face was 41 ± 5.6 months, while it was 11 ± 3.1 months in patients presenting with cardiovascular disease. Short nose/bulbous nasal type with anteverted nares and periorbital fullness, which are diagnostic facial features, were present in all patients in the infantile/ early childhood period. 80% of the patients had cardiovascular disease; supravalvular aortic stenosis (53.8%) and peripheral pulmonary artery stenosis (41%) were the most common cardiac anomalies.Intel lectu al/de velop menta l disability was present in 75.6% of the patients. Behavioral disorders including autism spectrum disorder and attention deficit hyperactivity disorder were detected in 50% of our patients. Hypersensitivity to loud and/or sudden sounds was present in all patients. We highlighted that recognition of facial findings is important for early diagnosis, especially in patients without cardiovascular disease. The frequency of cardiovascular, endocrinological, renal anomalies, and intellectual disab ility /deve lopme ntal delay was described that provide valuable information in the follow-up of patients.

Analysis of risk factors associated with extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenoses

ObjectiveAcute lung injury is a known complication of pulmonary artery reconstruction for peripheral pulmonary artery stenosis. Severe cases may require support with extracorporeal membrane oxygenation. The purpose of this study was to evaluate the characteristics of patients requiring extracorporeal membrane oxygenation after pulmonary artery reconstruction. MethodsThis was a retrospective study of 150 patients who underwent surgical repair of peripheral pulmonary artery stenosis at our institution from 2002 to 2022. Underlying diagnoses included Williams syndrome (n = 44), Alagille syndrome (n = 43), elastin arteriopathy (n = 21), tetralogy of Fallot (n = 21), and other (n = 21). Characteristics of patients who required extracorporeal membrane oxygenation were compared with those who did not require extracorporeal membrane oxygenation. ResultsEleven of the 150 patients undergoing pulmonary artery reconstruction (7.3%) required postoperative extracorporeal membrane oxygenation support (10 for acute lung injury and 1 for cardiac insufficiency). Four patients receiving extracorporeal membrane oxygenation had Williams syndrome, 3 patients had Alagille, and 4 patients had tetralogy of Fallot. Patients requiring extracorporeal membrane oxygenation had a higher preoperative right ventricle to aortic peak systolic pressure ratios (mean 1.14 vs 0.95), greater number of pulmonary artery ostial interventions (median, 23 vs 17), and longer duration of cardiopulmonary bypass (median, 597 vs 400 minutes). There were 3 in-hospital deaths (2.0%), 2 of whom required postoperative extracorporeal membrane oxygenation support. ConclusionsThe data demonstrate multiple differences between patients who did and did not require extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenosis. These results suggest that the preoperative extent of disease may predispose to the development of acute lung injury requiring extracorporeal membrane oxygenation support.