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Advances in Experimental Medicine and... 2024Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by several abnormalities that result in a significantly underdeveloped left...
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by several abnormalities that result in a significantly underdeveloped left ventricle and severe hypoplasia of the ascending aorta, often leading to retrograde perfusion. These abnormalities include aortic valve atresia or severe stenosis, accompanied by a severely hypoplastic aortic valve annulus (Fig. 59.1). Mitral valve atresia, hypoplasia, and/or stenosis with a hypoplastic valve annulus with or without a ventricular septal defect can also contribute to the development of HLHS. Endocardial fibroelastosis and sinusoids may be present as well. The interatrial septum can either be closed or the foramen ovale severely stenotic. Other malformations, such as anomalous pulmonary venous drainage or variations of the systemic veins, may coexist. It is also common to observe a coarctation of the aorta in these cases.
Topics: Humans; Infant, Newborn; Hypoplastic Left Heart Syndrome
PubMed: 38884761
DOI: 10.1007/978-3-031-44087-8_59 -
Advances in Experimental Medicine and... 2024The great arteries of the vertebrate carry blood from the heart to the systemic circulation and are derived from the pharyngeal arch arteries. In higher vertebrates, the... (Review)
Review
The great arteries of the vertebrate carry blood from the heart to the systemic circulation and are derived from the pharyngeal arch arteries. In higher vertebrates, the pharyngeal arch arteries are a symmetrical series of blood vessels that rapidly remodel during development to become the asymmetric aortic arch arteries carrying oxygenated blood from the left ventricle via the outflow tract. At the base of the aorta, as well as the pulmonary trunk, are the semilunar valves. These valves each have three leaflets and prevent the backflow of blood into the heart. During development, the process of aortic arch and valve formation may go wrong, resulting in cardiovascular defects, and these may, at least in part, be caused by genetic mutations. In this chapter, we will review models harboring genetic mutations that result in cardiovascular defects affecting the great arteries and the semilunar valves.
Topics: Animals; Aorta, Thoracic; Humans; Mutation; Disease Models, Animal; Aortic Valve; Heart Defects, Congenital
PubMed: 38884748
DOI: 10.1007/978-3-031-44087-8_46 -
Advances in Experimental Medicine and... 2024Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic... (Review)
Review
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt-Oram syndrome.
Topics: Humans; Aorta, Thoracic; Aortic Valve; Abnormalities, Multiple; Heart Defects, Congenital; Bicuspid Aortic Valve Disease; Pulmonary Valve Stenosis; Mutation; Receptor, Notch1; Aortic Valve Disease; Heart Valve Diseases; Calcinosis; Hematologic Diseases; Vestibular Diseases
PubMed: 38884747
DOI: 10.1007/978-3-031-44087-8_45 -
Advances in Experimental Medicine and... 2024d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the... (Review)
Review
d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects. In a simple d-TGA (about two-thirds of patients), there is no other cardiac abnormality other than a patent foramen ovale (PFO) and a patent ductus arteriosus (PDA). In a complex d-TGA additional cardiac abnormalities such as VSD, pulmonary stenosis or coronary abnormalities are present. About one-third to 40% of patients with d-TGA have an associated ventricular septal defect. Among patients with d-TGA, 6% of those with intact ventricular septum and 31% of those with ventricular septal defect have associated pulmonary stenosis. Coronary abnormalities are of importance with regard to the complexity of surgical repair.
Topics: Transposition of Great Vessels; Humans; Infant, Newborn; Heart Septal Defects, Ventricular; Cardiac Surgical Procedures; Pulmonary Valve Stenosis
PubMed: 38884740
DOI: 10.1007/978-3-031-44087-8_38 -
Advances in Experimental Medicine and... 2024Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular... (Review)
Review
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular septal defect, (2) an obstruction of the right ventricular outflow tract (usually infundibular and valvular pulmonary stenosis with a small pulmonary valve annulus and supravalvular stenosis, (3) an aorta that "overrides" the ventricular septal defect, and (4) right ventricular hypertrophy. TOF represents 4-8% of congenital heart defects. Specific variations of TOF include all forms of pulmonary atresia with VSD and absent pulmonary valve syndrome. In addition, the left and right main pulmonary arteries may be stenotic or hypoplastic. In these cases, there may be major aortopulmonary collateral arteries (MAPCAs) which are vessels arising from the aorta or the subclavian arteries that supply segments of the pulmonary arterial tree. Additional variations include an ASD (Pentalogy of Fallot), a right aortic arch, and coronary abnormalities.
Topics: Tetralogy of Fallot; Humans; Double Outlet Right Ventricle
PubMed: 38884737
DOI: 10.1007/978-3-031-44087-8_35 -
Radiology Case Reports Aug 2024Ventricular septal defect is the most common congenital heart disease in children and is associated with patent ductus arteriosus in 1%-7% of cases. The coexistence of...
Diagnostic approach and treatment of ventricular septal defect associated with PDA, coarctation of aorta, hypoplastic aortic arch and multiple valvular heart disease in a tertiary center: An infrequent association.
Ventricular septal defect is the most common congenital heart disease in children and is associated with patent ductus arteriosus in 1%-7% of cases. The coexistence of both malformities with hypoplastic aortic arch and aortic coarctation is even rarer. We present the case of a 6-year-old girl referred to our hospital because of dyspnea on feeding, recurrent respiratory infections, poor weight gain, and a heart murmur. The image studies revealed a ventricular septal defect, patent ductus arteriosus, severe hypoplasia of the aortic arch with critical stenosis of the proximal portion, severe dilatation of the pulmonary artery and pulmonary, mitral, tricuspid, and aortic regurgitation. We will discuss the diagnostic approach and treatment in a tertiary reference center for patients with cardiovascular diseases.
PubMed: 38872743
DOI: 10.1016/j.radcr.2024.05.034 -
BMC Cardiovascular Disorders Jun 2024Studies of transcatheter pulmonary valve replacement (TPVR) with the Melody valve have demonstrated good clinical and hemodynamic outcomes. Our study analyzes the...
BACKGROUND
Studies of transcatheter pulmonary valve replacement (TPVR) with the Melody valve have demonstrated good clinical and hemodynamic outcomes. Our study analyzes the midterm clinical and hemodynamic outcomes for patients who underwent Melody valve implantation in Southeast Asia.
METHODS
Patients with circumferential conduits or bioprosthetic valves and experiencing post-operative right ventricular outflow tract (RVOT) dysfunction were recruited for Melody TPVR.
RESULTS
Our cohort (n = 14) was evenly divided between pediatric and adult patients. The median age was 19 years (8-38 years), a male-to-female ratio of 6:1 with a median follow-up period of 48 months (16-79 months), and the smallest patient was an 8-year-old boy weighing 18 kg. All TPVR procedures were uneventful and successful with no immediate mortality or conduit rupture. The primary implant indication was combined stenosis and regurgitation. The average conduit diameter was 21 ± 2.3 mm. Concomitant pre-stenting was done in 71.4% of the patients without Melody valve stent fractures (MSFs). Implanted valve size included 22-mm (64.3%), 20-mm (14.3%), and 18-mm (21.4%). After TPVR, the mean gradient across the RVOT was significantly reduced from 41 mmHg (10-48 mmHg) to 16 mmHg (6-35 mmHg) at discharge, p < 0.01. Late follow-up infective endocarditis (IE) was diagnosed in 2 patients (14.3%). Overall freedom from IE was 86% at 79 months follow-up. Three patients (21.4%) developed progressive RVOT gradients.
CONCLUSION
For patients in Southeast Asia with RVOT dysfunction, Melody TPVR outcomes are similar to those reported for patients in the US in terms of hemodynamic and clinical improvements. A pre-stenting strategy was adopted and no MSFs were observed. Post-implantation residual stenosis and progressive stenosis of the RVOT require long term monitoring and reintervention. Lastly, IE remained a concern despite vigorous prevention and peri-procedural bacterial endocarditis prophylaxis.
Topics: Humans; Male; Child; Heart Valve Prosthesis; Female; Heart Valve Prosthesis Implantation; Adolescent; Pulmonary Valve; Treatment Outcome; Hemodynamics; Young Adult; Prosthesis Design; Cardiac Catheterization; Time Factors; Adult; Recovery of Function; Pulmonary Valve Insufficiency; Bioprosthesis; Pulmonary Valve Stenosis; Retrospective Studies; Risk Factors; Asia, Southeastern
PubMed: 38872098
DOI: 10.1186/s12872-024-03919-7 -
European Journal of Pediatrics Jun 2024Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by special facial gestalt, delayed development, and supravalvular aortic stenosis or/and stenosis...
UNLABELLED
Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by special facial gestalt, delayed development, and supravalvular aortic stenosis or/and stenosis of the branches of the pulmonary artery. We aim to develop and optimize accurate models of facial recognition to assist in the diagnosis of WBS, and to evaluate their effectiveness by using both five-fold cross-validation and an external test set. We used a total of 954 images from 135 patients with WBS, 124 patients suffering from other genetic disorders, and 183 healthy children. The training set comprised 852 images of 104 WBS cases, 91 cases of other genetic disorders, and 145 healthy children from September 2017 to December 2021 at the Guangdong Provincial People's Hospital. We constructed six binary classification models of facial recognition for WBS by using EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN. Transfer learning was used to pre-train the models, and each model was modified with a variable cosine learning rate. Each model was first evaluated by using five-fold cross-validation and then assessed on the external test set. The latter contained 102 images of 31 children suffering from WBS, 33 children with other genetic disorders, and 38 healthy children. To compare the capabilities of these models of recognition with those of human experts in terms of identifying cases of WBS, we recruited two pediatricians, a pediatric cardiologist, and a pediatric geneticist to identify the WBS patients based solely on their facial images. We constructed six models of facial recognition for diagnosing WBS using EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN. The model based on VGG-19BN achieved the best performance in terms of five-fold cross-validation, with an accuracy of 93.74% ± 3.18%, precision of 94.93% ± 4.53%, specificity of 96.10% ± 4.30%, and F1 score of 91.65% ± 4.28%, while the VGG-16BN model achieved the highest recall value of 91.63% ± 5.96%. The VGG-19BN model also achieved the best performance on the external test set, with an accuracy of 95.10%, precision of 100%, recall of 83.87%, specificity of 93.42%, and F1 score of 91.23%. The best performance by human experts on the external test set yielded values of accuracy, precision, recall, specificity, and F1 scores of 77.45%, 60.53%, 77.42%, 83.10%, and 66.67%, respectively. The F1 score of each human expert was lower than those of the EfficientNet-b3 (84.21%), ResNet-50 (74.51%), VGG-16 (85.71%), VGG-16BN (85.71%), VGG-19 (83.02%), and VGG-19BN (91.23%) models.
CONCLUSION
The results showed that facial recognition technology can be used to accurately diagnose patients with WBS. Facial recognition models based on VGG-19BN can play a crucial role in its clinical diagnosis. Their performance can be improved by expanding the size of the training dataset, optimizing the CNN architectures applied, and modifying them with a variable cosine learning rate.
WHAT IS KNOWN
• The facial gestalt of WBS, often described as "elfin," includes a broad forehead, periorbital puffiness, a flat nasal bridge, full cheeks, and a small chin. • Recent studies have demonstrated the potential of deep convolutional neural networks for facial recognition as a diagnostic tool for WBS.
WHAT IS NEW
• This study develops six models of facial recognition, EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN, to improve WBS diagnosis. • The VGG-19BN model achieved the best performance, with an accuracy of 95.10% and specificity of 93.42%. The facial recognition model based on VGG-19BN can play a crucial role in the clinical diagnosis of WBS.
PubMed: 38871980
DOI: 10.1007/s00431-024-05646-9 -
Clinical Nuclear Medicine Jun 2024A 58-year-old man with resected liposarcoma exhibited persistent irregular interlobular septal thickening of lung on CT concerning lymphangitic metastasis. FDG PET/CT...
A 58-year-old man with resected liposarcoma exhibited persistent irregular interlobular septal thickening of lung on CT concerning lymphangitic metastasis. FDG PET/CT was positive in these foci. There was a narrowing of the pulmonary veins, which had not been seen on the imaging conducted prior to radiofrequency ablation therapy for atrial fibrillation. Lung perfusion scanning demonstrated more extensive hypoperfusion. This case highlights the diagnostic pitfalls of interstitial thickening of the lung in cancer patients. Meticulous history review and nuclear imaging helped distinguish the postablation pulmonary venous stenosis from metastatic spread to the lung interstitium.
PubMed: 38861420
DOI: 10.1097/RLU.0000000000005294 -
Radiotherapy and Oncology : Journal of... Jun 2024Use of stereotactic ablative radiotherapy (SABR) for central lung tumors can result in up to a 35% incidence of late pulmonary toxicity. We evaluated an automated...
INTRODUCTION
Use of stereotactic ablative radiotherapy (SABR) for central lung tumors can result in up to a 35% incidence of late pulmonary toxicity. We evaluated an automated scoring method to quantify post-SABR bronchial changes by using artificial intelligence (AI)-based airway segmentation.
MATERIALS AND METHODS
Central lung SABR patients treated at Amsterdam UMC (AUMC, internal reference dataset) and Peter MacCallum Cancer Centre (PMCC, external validation dataset) were identified. Patients were eligible if they had pre- and post-SABR CT scans with ≤ 1 mm resolution. The first step of the automated scoring method involved AI-based airway auto-segmentation using MEDPSeg, an end-to-end deep learning-based model. The Vascular Modeling Toolkit in 3D Slicer was then used to extract a centerline curve through the auto-segmented airway lumen, and cross-sectional measurements were computed along each bronchus for all CT scans. For AUMC patients, airway stenosis/occlusion was evaluated by both visual assessment and automated scoring. Only the automated method was applied to the PMCC dataset.
RESULTS
Study patients comprised 26 from AUMC, and 33 from PMCC. Visual scoring identified stenosis/occlusion in 8 AUMC patients (31 %), most frequently in the segmental bronchi. After airway auto-segmentation, minor manual edits were needed in 9 % of patients. Segmentation for a single scan averaged 83sec (range 73-136). Automated scoring nearly doubled detected airway stenosis/occlusion (n = 15, 58 %), and allowed for earlier detection in 5/8 patients who had also visually scored changes. Estimated rates were 48 % and 66 % at 1- and 2-years, respectively, for the internal dataset. The automated detection rate was 52 % in the external dataset, with 1- and 2-year risks of 56 % and 61 %, respectively.
CONCLUSION
An AI-based automated scoring method allows for detection of more bronchial stenosis/occlusion after lung SABR, and at an earlier time-point. This tool can facilitate studies to determine early airway changes and establish more reliable airway tolerance doses.
PubMed: 38857700
DOI: 10.1016/j.radonc.2024.110376