Congenital lung diseases in adults are rare diseases that can present with symptoms or be detected incidentally. Familiarity with the imaging features of different types of congenital lung diseases helps both in correct diagnosis and management of these diseases. Congenital lung diseases in adults are classified into three main categories as bronchopulmonary anomalies, vascular anomalies, and combined bronchopulmonary and vascular anomalies. Contrast-enhanced computed tomography, especially 3D reconstructions, CT, or MR angiography, can show vascular anomalies in detail. The tracheobronchial tree, parenchymal changes, and possible complications can also be defined on chest CT, and new applications such as quantitative 3D reconstruction CT images, dual-energy CT (DECT) can be helpful in imaging parenchymal changes. In addition to the morphological assessment of the lungs, novel MRI techniques such as ultra-short echo time (UTE), arterial spin labeling (ASL), and phase-resolved functional lung (PREFUL) can provide functional information. This pictorial review aims to comprehensively define the radiological characteristics of each congenital lung disease in adults and to highlight differential diagnoses and possible complications of these diseases.
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http://dx.doi.org/10.1186/s13244-021-01095-2 | DOI Listing |
We present a clinical observation of an 18-year-old female patient with congenital bronchiectasis combined with congenital cystic degeneration of the upper lobes of both lungs, Williams-Campbell syndrome, long-COVID, severe course. The patient was treated in infectious disease department (three times), with subsequent transfer to pulmonology department of Kursk Regional Multi-Purpose Clinical Hospital from 31.01.
View Article and Find Full Text PDFEur J Hum Genet
December 2024
National EDS Service, London North West University Healthcare NHS Trust, London, UK.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.
View Article and Find Full Text PDFAdv Respir Med
December 2024
Department of Thoracic Surgery, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing 100020, China.
Background: Recent studies on bronchiectasis have revealed significant structural abnormalities and pathophysiological changes. However, there is limited research focused on pulmonary venous variability and congenital variation. Through our surgical observations, we noted that coarctation of pulmonary veins and atrophied lung volume are relatively common in bronchiectasis patients.
View Article and Find Full Text PDFEur J Clin Invest
December 2024
First Department of Cardiology, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Background: Adults with congenital heart disease (ACHD) can face a lifelong risk of premature cardiovascular events. Endothelial dysfunction and arterial stiffness may be some of the key mechanisms involved. Early identification of endothelial damage in ACHD could be crucial to mitigate the adverse events.
View Article and Find Full Text PDFArterioscler Thromb Vasc Biol
December 2024
Department of Pediatrics (T.S., J.-R.M., Y.H.C., J.M.S., J. Kaplan, A.C., L.W., D.G., S.T., S.I., M.D., W.Y., A.L.M., M.R.).
Background: Computational modeling indicated that pathological high shear stress (HSS; 100 dyn/cm) is generated in pulmonary arteries (PAs; 100-500 µm) in congenital heart defects causing PA hypertension (PAH) and in idiopathic PAH with occlusive vascular remodeling. Endothelial-to-mesenchymal transition (EndMT) is a feature of PAH. We hypothesize that HSS induces EndMT, contributing to the initiation and progression of PAH.
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