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Cureus Jul 2023The term "aortopulmonary window" (APW), often referred to as "aortopulmonary septal defect," refers to a rare congenital medical disorder where there is an improper...
The term "aortopulmonary window" (APW), often referred to as "aortopulmonary septal defect," refers to a rare congenital medical disorder where there is an improper direct link between the main pulmonary artery and the ascending aorta. It can be combined with other cardiac congenital conditions or be an isolated lesion. Herein, we report the incidental discovery of a minor, restrictive aortopulmonary septal defect in a 60-year-old male who denied having any clinical symptoms. Incidentally detected APW in adulthood is uncommon and, hence, can be readily overlooked, a fortiori, in asymptomatic patients.
PubMed: 37637538
DOI: 10.7759/cureus.42524 -
Brazilian Journal of Cardiovascular... Mar 2022Patient diagnosed with common arterial trunk, submitted to pulmonary artery banding in another center and lost to clinical follow-up. Referred to our center at four...
CLINICAL DATA
Patient diagnosed with common arterial trunk, submitted to pulmonary artery banding in another center and lost to clinical follow-up. Referred to our center at four years old, extremely cyanotic. Chest radiography: Cardiomegaly; attenuated peripheral vascular markings. Electrocardiography: Right ventricular hypertrophy. Echocardiography: Common arterial trunk, but it was not possible to analyze all the structures. Computed tomography angiography: Van Praagh type A4 common arterial trunk. Extremely hypoplastic right and left pulmonary arteries.
DIAGNOSIS
Association of aortic arch interruption type A is uncommon and should be considered.
OPERATION
Debanding of pulmonary arteries allowing for possible future complete repair.
Topics: Aorta, Thoracic; Child, Preschool; Echocardiography; Heart Defects, Congenital; Humans; Pulmonary Artery; Truncus Arteriosus, Persistent
PubMed: 35072407
DOI: 10.21470/1678-9741-2021-0008 -
American Journal of Medical Genetics.... Aug 2022Pathogenic variants in ACTA2, encoding smooth muscle α-actin, predispose to thoracic aortic aneurysms and dissections. ACTA2 variants altering arginine 179 predispose...
Pathogenic variants in ACTA2, encoding smooth muscle α-actin, predispose to thoracic aortic aneurysms and dissections. ACTA2 variants altering arginine 179 predispose to a more severe, multisystemic disease termed smooth muscle dysfunction syndrome (SMDS; OMIM 613834). Vascular complications of SMDS include patent ductus arteriosus (PDA) or aortopulmonary window, early-onset thoracic aortic disease (TAD), moyamoya-like cerebrovascular disease, and primary pulmonary hypertension. Patients also have dysfunction of other smooth muscle-dependent systems, including congenital mydriasis, hypotonic bladder, and gut hypoperistalsis. Here, we describe five patients with novel heterozygous ACTA2 missense variants, p.Arg179Gly, p.Met46Arg, p.Thr204Ile, p.Arg39Cys, and p.Ile66Asn, who have clinical complications that align or overlap with SMDS. Patients with the ACTA2 p.Arg179Gly and p.Thr204Ile variants display classic features of SMDS. The patient with the ACTA2 p.Met46Arg variant exhibits exclusively vascular complications of SMDS, including early-onset TAD, PDA, and moyamoya-like cerebrovascular disease. The patient with the ACTA2 p.Ile66Asn variant has an unusual vascular complication, a large fusiform internal carotid artery aneurysm. The patient with the ACTA2 p.Arg39Cys variant has pulmonary, gastrointestinal, and genitourinary complications of SMDS but no vascular manifestations. Identifying pathogenic ACTA2 variants associated with features of SMDS is critical for aggressive surveillance and management of vascular and nonvascular complications and delineating the molecular pathogenesis of SMDS.
Topics: Actins; Aortic Aneurysm, Thoracic; Cerebrovascular Disorders; Ductus Arteriosus, Patent; Heterozygote; Humans; Moyamoya Disease; Muscle, Smooth; Mutation; Phenotype
PubMed: 35567597
DOI: 10.1002/ajmg.a.62775 -
The Journal of Thoracic and... Jan 2022
Topics: Humans; Truncus Arteriosus; Truncus Arteriosus, Persistent; Ventricular Outflow Obstruction
PubMed: 33965220
DOI: 10.1016/j.jtcvs.2021.03.103 -
Interdisciplinary Cardiovascular and... Jun 2023Aortopulmonary window (APW) associated with an interrupted aortic arch (IAA) is a rare cardiac malformation with significant mortality and morbidity. The goal of this...
OBJECTIVES
Aortopulmonary window (APW) associated with an interrupted aortic arch (IAA) is a rare cardiac malformation with significant mortality and morbidity. The goal of this study was to report the intermediate outcomes of single-stage repair concentrating on the surgical techniques and postoperative reintervention for this rare cardiac lesion.
METHODS
Eleven patients were diagnosed with IAA-associated APW and underwent single-stage surgical repair at Vietnam National Children's Hospital.
RESULTS
The APW anatomy types were types I, II and III in 1, 4 and 6 patients, respectively. The IAA morphology was type A in 9 patients and type B in 2 patients. The median age was 27 [interquartile range (IQR) 6-79] days, and the median weight was 3.5 (IQR 2.8-4.5) kg. The aortic arch was repaired using direct end-to-side tissue anastomosis in 7 patients, and patch aortoplasty was performed in 4 patients. Six patients underwent APW closure with an intra-aortic baffle, and 5 patients required right pulmonary artery detachment and reimplantation. One early death occurred. Four patients required reinterventions: 1 patient required reoperation due to aortic stenosis and 3 required balloon angioplasty for either recurrent aortic arch stenosis (n = 1) or right pulmonary stenosis (n = 2) with a mean follow-up time of 3.1 years (IQR 0.5-4.3 years).
CONCLUSIONS
Single-stage repair of IAA-associated APW can be achieved with good survival outcomes in children. However, the need for repeat reintervention or reoperation remains high, and the growth of both the aorta and pulmonary arteries should follow carefully as the patient grows.
CLINICAL REGISTRATION NUMBER
VNCH-RICH-18-96.
PubMed: 37184919
DOI: 10.1093/icvts/ivad077 -
JTCVS Open Sep 2023To evaluate the long-term performance of the patch materials we have used to augment the pulmonary arterial tree across a wide spectrum of diagnoses and anatomical...
OBJECTIVE
To evaluate the long-term performance of the patch materials we have used to augment the pulmonary arterial tree across a wide spectrum of diagnoses and anatomical locations.
METHODS
Retrospective, single-center review of 217 consecutive pediatric patients at a tertiary referral center from 1993 to 2020 who underwent patch arterioplasty of the pulmonary arterial tree from the pulmonary bifurcation to the distal pulmonary arterial branches. Reintervention data were collected and analyzed. Lesion-specific anatomy and other variables were analyzed as risk factors for reintervention.
RESULTS
There were 280 total operations performed (217 initial operations and 63 reoperations) and 313 patches used. The patches used were autologous pericardium (166, 53.0%), pulmonary homograft (126, 40.3%), and a heterogeneous group of other materials (21, 6.7%). Overall patient survival was 86.2%, freedom from reoperation was 81.0% and freedom from reintervention (FFR) was 70.6%, with a median follow-up of 13.8 years (interquartile range, 6.3-17.9 years). For all patches, 10-, 20-, and 27-year FFR was 76.6%, 70.6%, and 70.6%, respectively. FFR was similar among all 3 patch type groups ( = .29). Multivariable Cox regression analysis showed that diagnoses of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries and hypoplastic left heart syndrome, patches placed at initial cardiac operation, and increasing number of cardiac operations were risk factors for reintervention.
CONCLUSIONS
Autologous pericardium and pulmonary homograft patches performed similarly. Although patch type conferred no difference in need for reintervention, other risk factors did exist. Namely, diagnoses of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries and hypoplastic left heart syndrome, patch placement at a patient's first cardiac operation, and increasing number of cardiac operations were risk factors for reintervention.
PubMed: 37808011
DOI: 10.1016/j.xjon.2023.05.007 -
Brazilian Journal of Cardiovascular... Aug 2020To evaluate surgical management and results of patients with pulmonary atresia and ventricular septal defect with major aortopulmonary collateral arteries...
Surgical Strategies and Results for Repair of Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals: Experience of a Single Tertiary Center.
OBJECTIVE
To evaluate surgical management and results of patients with pulmonary atresia and ventricular septal defect with major aortopulmonary collateral arteries (PA/VSD/MAPCAs).
METHODS
We reviewed a consecutive series of patients with PA/VSD/MAPCAs between January 2012 and October 2018. Study patients were separated into Group A, efficient MAPCAs; Group B, hypoplastic MAPCAs; Group C, severe hypoplastic MAPCAs at all divisions; and Group D, distal stenosis at most MAPCAs divisions.
RESULTS
Thirty-six patients were included in the study. Median age at operation time was 5.5 months (2-110 months), median weight was 8 kg (2.5-21 kg), and median number of MAPCAs was three (1-6). In Group A, 14 patients underwent single-stage total correction (TC); in Group B, 18 patients underwent unifocalization and central shunting; and in Group C, four patients had aortopulmonary window creation and collateral ligation. No patient was placed in Group D. Seventy percent of patients (n=25) had the TC operation. Early mortality was not seen in Group A, but the other two groups had a 13.6% mortality rate. At the follow-up, three patients had reintervention, two had new conduit replacement, and one had right ventricular outflow tract reconstruction.
CONCLUSION
Evaluating patients with PA/VSD/MAPCAs in detail and subdividing them is quite useful in determining the appropriate surgical approach. With this strategy, TC can be achieved in most patients. Single-stage TC is better than other surgical methods due to its lower mortality and reintervention rates. Care should be taken in terms of early postoperative intensive care complications and reintervention indications during follow-ups.
Topics: Cardiac Surgical Procedures; Child; Child, Preschool; Collateral Circulation; Female; Heart Septal Defects; Humans; Infant; Male; Pulmonary Artery; Pulmonary Atresia; Retrospective Studies
PubMed: 32864922
DOI: 10.21470/1678-9741-2019-0055 -
The American Journal of Case Reports Dec 2023BACKGROUND An aortopulmonary window (APW) is an uncommon congenital defect of the septation between the ascending aorta and pulmonary trunk. The combination of APW and...
BACKGROUND An aortopulmonary window (APW) is an uncommon congenital defect of the septation between the ascending aorta and pulmonary trunk. The combination of APW and interrupted aortic arch (IAA) is even rarer, with the hallmark characteristics of high peri-operative mortality and postoperative obstruction of the aortic arch, pulmonary artery, and left main bronchus. These complications often need re-interventions. CASE REPORT We present 2 cases with diagnoses of APW and IAA that were treated with single-stage repair. Case 1: A male 32-week premature newborn (weight 1789 g) had APW type I and IAA type A. He had severe postoperative aortic arch obstruction on postoperative day 1, and we re-intervened promptly. He was still asymptomatic after 6 years. Case 2: A male term neonate had APW type III and IAA type A. He had left vocal cord paralysis and left bronchial compression postoperatively. We applied prolonged noninvasive respiratory supports. The complications resolved without re-intervention on postoperative day 66. Progressive arch stenosis at anastomosis after operation required close follow-up with echocardiography. CONCLUSIONS These 2 reports highlight the feasibility of single-stage surgical repair while addressing 2 challenges: (1) Recurrent arch stenosis: Lower body weight and direct end-to-side anastomosis without patch augmentation could be risk factors for re-intervention. (2) Bronchial compression: Presentation of the second reported case implied that bronchial compression may not warrant immediate re-intervention unless there is complete obstruction, persistent atelectasis, or recurrent infection. Further studies on long-term outcomes of different surgical procedure would help us to clarify the proper way to avoid re-intervention.
Topics: Humans; Infant, Newborn; Male; Aorta; Aorta, Thoracic; Aortopulmonary Septal Defect; Constriction, Pathologic; Treatment Outcome
PubMed: 38124359
DOI: 10.12659/AJCR.942193 -
Frontiers in Cardiovascular Medicine 2021Berry syndrome is a challenging disease for surgeons to make early diagnosis and successful surgical correction in the neonatal period. Here, we summarized the clinical...
BACKGROUND
Berry syndrome is a challenging disease for surgeons to make early diagnosis and successful surgical correction in the neonatal period. Here, we summarized the clinical features of three neonates with berry syndrome in our center to optimize the therapeutic effect in the future.
METHODS
From January 2014 to December 2019, three neonates with berry syndrome underwent one-stage surgical repair in our center. We mainly used two different surgical techniques to repair it, and collected clinical data retrospectively from hospitalization history, outpatient records, and telephone follow-up.
RESULTS
The age at operation was 28, 8, and 8 days and the body weight was 3.65, 3.86, and 3.0 kg, respectively. The morphology of the interrupted aortic arch (IAA) was type A in two patients and type B in one patient. The aortopulmonary window (APW) morphology was type IIa, III, and IIb, respectively. The phenotype of the IAA type B combined with APW type III in our second patient was reported for the first time so far. All patients survived and were followed up to date. The second patient using intra-aortic baffle experienced twice reoperation for right pulmonary artery (RPA) stenosis. All patients grew well so far.
CONCLUSION
Once diagnosed in the neonatal period, berry syndrome can be safely corrected by one-stage surgical repair in experienced cardiac centers. Considering the variability of the location where the RPA arises from the posterior wall of the aorta, it is difficult to find the best surgical method for each patient.
PubMed: 35155602
DOI: 10.3389/fcvm.2021.790303 -
Journal of Thoracic Disease Sep 2019Extended thymectomy has been considered the goal of surgery for myasthenia gravis (MG) mainly due to the existence of ectopic thymic tissue. Recently, ectopic thymic... (Review)
Review
Extended thymectomy has been considered the goal of surgery for myasthenia gravis (MG) mainly due to the existence of ectopic thymic tissue. Recently, ectopic thymic tissue has attracted increasing attention in patients with MG following thymectomy. However, the specific role of ectopic thymic tissue in patients with MG is still under debate. A systematic search of the literature was performed on PubMed and Medline according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISM) statement. Studies evaluating the rate of ectopic thymic tissue in patients with MG with or without thymoma were included. Extraction was performed for all eligible studies and the rate of ectopic thymic tissue at common locations was calculated. Eighteen out of fifty-nine studies were eligible for inclusion, of which ten studies reported the common locations of ectopic thymic tissue in mediastinal fat. Of these ten studies, the presence of ectopic thymic tissue was investigated in different anatomical locations in 882 patients, of whom, 509 patients (58%) have at least one positive location with the most common ones being anterior mediastinal fat, pericardiophrenic angles, aortopulmonary window, cervical region (pretracheal fat) and lateral to phrenic nerves. On the other hand, nine studies analyzed the influence of the presence of ectopic thymic tissue on the clinical outcomes of MG patients. Of these, six found that the presence of ectopic thymic tissue in MG patients is a significant predictor of poor outcome after thymectomy, however, the other three did not find a significance. Altogether, ectopic thymic tissue is likely to present in more than a half of patients undergoing thymectomy for MG. Besides, MG patients who have ectopic thymic tissue after thymectomy do not seem to have as good outcome as those who have not.
PubMed: 31656680
DOI: 10.21037/jtd.2019.08.109