-
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 -
The Journal of Thoracic and... Aug 2019Midline unifocalization has been developed for the surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries....
OBJECTIVE
Midline unifocalization has been developed for the surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. All patients will eventually require reoperation due to the presence of a conduit, and some may also require revision of the distal unifocalized bed. The purpose of this study was to evaluate the surgical results of unifocalization revision.
METHODS
This was a retrospective review of 254 patients who underwent midline unifocalization for treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. Forty-eight of 254 patients (18%) have subsequently undergone unifocalization revision. Thirty-two of these patients had previously undergone a single-stage complete repair, whereas 16 had a unifocalization and placement of a central shunt.
RESULTS
For the 32 patients who previously underwent a complete repair, there have been no early or late deaths. The peak systolic pulmonary artery to aortic pressure ratio was 0.44 ± 0.11 after the initial repair and increased to 0.82 ± 0.18 before revision. The pressure ratio decreased to 0.41 ± 0.09 after revision. Three of 32 patients (9%) have subsequently undergone a second unifocalization revision. The 16 patients who previously had a unifocalization/shunt underwent unifocalization revision and complete repair (n = 14) and revision and repeat shunt (n = 2). There was 1 operative mortality and 3 late deaths (25% total) in this cohort. Three (25%) of 12 survivors have subsequently undergone a second unifocalization revision.
CONCLUSIONS
The data demonstrate that unifocalization revision can be performed with a successful outcome in a majority of patients. Patients who underwent an initial unifocalization/shunt had a higher failure rate than patients who were initially repaired.
Topics: Aorta; Aortopulmonary Septal Defect; Collateral Circulation; Coronary Vessel Anomalies; Female; Heart Septal Defects; Humans; Infant; Infant, Newborn; Male; Pulmonary Artery; Pulmonary Atresia; Reoperation; Retrospective Studies
PubMed: 30982588
DOI: 10.1016/j.jtcvs.2018.09.135 -
Endocrine-related Cancer Sep 2016The vagus nerve (cranial nerve X) is the main nerve of the parasympathetic division of the autonomic nervous system. Vagal paragangliomas (VPGLs) are a prime example of... (Review)
Review
The vagus nerve (cranial nerve X) is the main nerve of the parasympathetic division of the autonomic nervous system. Vagal paragangliomas (VPGLs) are a prime example of an endocrine tumor associated with the vagus nerve. This rare, neural crest tumor constitutes the second most common site of hereditary head and neck paragangliomas (HNPGLs), most often in relation to mutations in the succinate dehydrogenase complex subunit D (SDHD) gene. The treatment paradigm for VPGL has progressively shifted from surgery to abstention or therapeutic radiation with curative-like outcomes. Parathyroid tissue and parathyroid adenoma can also be found in close association with the vagus nerve in intra or paravagal situations. Vagal parathyroid adenoma can be identified with preoperative imaging or suspected intraoperatively by experienced surgeons. Vagal parathyroid adenomas located in the neck or superior mediastinum can be removed via initial cervicotomy, while those located in the aortopulmonary window require a thoracic approach. This review particularly emphasizes the embryology, molecular genetics, and modern imaging of these tumors.
Topics: Cranial Nerve Neoplasms; Humans; Paraganglioma; Parathyroid Neoplasms; Vagus Nerve; Vagus Nerve Diseases
PubMed: 27406876
DOI: 10.1530/ERC-16-0241 -
Pediatric Cardiology Jan 2022The topsy-turvy heart is a very rare cardiac malformation that involves a global 90° clockwise rotation of the heart along its long axis. This rotation results in the... (Review)
Review
The topsy-turvy heart is a very rare cardiac malformation that involves a global 90° clockwise rotation of the heart along its long axis. This rotation results in the displacement of the great arteries and severe elongation and stretching of the brachiocephalic arteries and the bronchi. We present an unusual case of topsy-turvy heart diagnosed prenatally with a large aorto-pulmonary window and. This case gives an insight into the morphological details and clinical presentation of this rare malformation and its associated complications. We also present a review of the literature of this rare anomaly showing only 15 live cases that have been published with only three cases diagnosed prenatally.
Topics: Aortopulmonary Septal Defect; Female; Heart Defects, Congenital; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 34448896
DOI: 10.1007/s00246-021-02710-1 -
The Journal of Thoracic and... Jul 2017Thymectomy is part of the therapeutic armamentarium for myasthenia gravis (MG). During the past 80 years, multiple observational studies have shown that thymectomy can...
Thymectomy is part of the therapeutic armamentarium for myasthenia gravis (MG). During the past 80 years, multiple observational studies have shown that thymectomy can potentially fasten stabilization of the disease, reduce the need for corticosteroids, and in some patients lead to complete remission. The benefit from thymectomy in MG is supported by propensity score analysis. A randomized control trial looking at the role of thymectomy in nonthymomatous MG patients was recently completed, but the results are not yet available. The approach and extent of thymectomy remain a topic of intense discussion, particularly with the development of minimally invasive surgery. Although the presence of extracapsular thymic tissue is frequent and well described, the accessibility of these ectopic thymic foci as well as their function and impact on outcome after surgery have been unclear, leading to divergent views between proponents of a maximal cervicomediastinal thymectomy with en bloc resection of all fatty tissue between the thyroid grand and the diaphragm and those of a less extensive approach. In the future, better definition of the type of thymectomy will be important, particularly if prospective studies and randomized trials are performed to compare different surgical approaches. One possibility would be to reserve the term "extended thymectomy" to resection of the thymus with the anterior mediastinal fat between both pleura, the pericardium and diaphragm. More extensive surgery should be specified when it encompasses sites such as the right and left pericardiophrenic angles, the aortopulmonary window, the aortocaval groove and retroinnominate space, and the perithyroid area.
Topics: Humans; Myasthenia Gravis; Thymectomy
PubMed: 26880052
DOI: 10.1016/j.jtcvs.2016.01.006 -
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 -
Journal of the American Heart... Nov 2020Background Long-term survival in patients with truncus arteriosus is favorable, but there remains significant morbidity associated with ongoing reinterventions. We aimed...
Background Long-term survival in patients with truncus arteriosus is favorable, but there remains significant morbidity associated with ongoing reinterventions. We aimed to study the long-term outcomes of the truncal valve and identify risk factors associated with truncal valve intervention. Methods and Results We retrospectively reviewed patients who underwent initial truncus arteriosus repair at our institution from 1985 to 2016. Analysis was performed on the 148 patients who were discharged from the hospital and survived ≥30 days postoperatively using multivariable competing risks Cox regression modeling. Median follow-up time was 12.6 years (interquartile range, 5.0-22.1 years) after discharge from full repair. Thirty patients (20%) underwent at least one intervention on the truncal valve during follow-up. Survival at 1, 10, and 20 years was 93.1%, 87.0%, and 80.9%, respectively. The cumulative incidence of any truncal valve intervention by 20 years was 25.6%. Independent risk factors for truncal valve intervention included moderate or greater truncal valve regurgitation (hazard ratio [HR], 4.77; <0.001) or stenosis (HR, 4.12; <0.001) before full truncus arteriosus repair and moderate or greater truncal valve regurgitation at discharge after full repair (HR, 8.60; <0.001). During follow-up, 33 of 134 patients (25%) progressed to moderate or greater truncal valve regurgitation. A larger truncal valve root -score before truncus arteriosus full repair and during follow-up was associated with worsening truncal valve regurgitation. Conclusions Long-term rates of truncal valve intervention are significant. At least moderate initial truncal valve stenosis and initial or residual regurgitation are independent risk factors associated with truncal valve intervention. Larger truncal valve root -score is associated with significant truncal valve regurgitation and may identify a subset of patients at risk for truncal valve dysfunction over time.
Topics: Female; Heart Valve Diseases; Humans; Infant; Infant, Newborn; Male; Postoperative Complications; Reoperation; Retrospective Studies; Survival Rate; Treatment Outcome; Truncus Arteriosus, Persistent
PubMed: 33161813
DOI: 10.1161/JAHA.120.019104 -
Balkan Medical Journal Jun 2013Aortopulmonary window (APW) is a communication between the ascending aorta and the pulmonary artery in the presence of two separate semilunar valves and is the rarest of...
BACKGROUND
Aortopulmonary window (APW) is a communication between the ascending aorta and the pulmonary artery in the presence of two separate semilunar valves and is the rarest of septal defects.
AIMS
To present our experience with the diagnosis and outcome of APW cases.
STUDY DESIGN
Retrospective cohort study.
METHODS
Between June 2003 and October 2011, thirteen patients were diagnosed with APW. Clinical features of patients, findings of echocardiographic and angiographic examination, results of surgical intervention and follow-up were reviewed retrospectively.
RESULTS
Eleven children (10 days to 16 years), underwent surgical correction of APW. In a 12-month-old boy, the defect was repaired by the transcatheter approach. In addition to APW repair, closure of VSD was performed in 2 patients. APW were associated with interruption in two patients; one also had a complex pathology. None of the patients died due to complications of surgical or transcatheter procedures. After a median follow-up period of 40 months, the patients were asymptomatic and none of them required additional medication, except for the patient with complex pathology including an interrupted aortic arch, who underwent balloon angioplasty for recoarctation.
CONCLUSION
In any infant with the findings of congestive heart failure and failure to thrive, APW must be kept in mind as a differential diagnosis. In isolated APW cases before 6 months of age, echocardiography is often sufficient for diagnosis. In complex cases, cardiac catheterisation is performed for the comprehensive evaluation of associated defects. After 6 months, cardiac catheterisation could be utilised to perform vasoreactivity testing and, if possible, to close the defect.
PubMed: 25207099
DOI: 10.5152/balkanmedj.2013.6995 -
The Journal of Thoracic and... Nov 2021
Topics: Child; Heart Valves; Humans; Truncus Arteriosus, Persistent
PubMed: 33323192
DOI: 10.1016/j.jtcvs.2020.10.100 -
Heart Views : the Official Journal of... Jul 2012One of the rarest congenital heart diseases that results from a defect between the main pulmonary artery and the proximal aorta is named aortopulmonary window (APW)....
One of the rarest congenital heart diseases that results from a defect between the main pulmonary artery and the proximal aorta is named aortopulmonary window (APW). Such abnormality could be isolated, but in fifty percent of patients may be associated with other cardiac abnormalities, including arch abnormalities, specifically coarctation of the aorta, interrupted aortic arch, tetralogy of fallot, and atrial septal defect (ASD). Surgical closure or catheter-delivered devices is recommended in all patients with APW and should be performed after diagnosis as soon as possible to prevent irreversible pulmonary vascular disease. In the current era, early mortality following repair of simple APW is low and depends on the presence of associated lesions, especially interrupted aortic arch. We report an 8-month-old boy with APW who was referred to our center by respiratory symptoms and heart murmurs.
PubMed: 23181179
DOI: 10.4103/1995-705X.102153