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Journal of Osteopathic Medicine Jun 2021
Topics: Humans; Lung; Pulmonary Veins; Scimitar Syndrome
PubMed: 34161694
DOI: 10.1515/jom-2021-0142 -
JTCVS Techniques Mar 2020
PubMed: 34317723
DOI: 10.1016/j.xjtc.2019.12.009 -
Journal of General Internal Medicine Feb 2016
Topics: Adult; Dextrocardia; Female; Humans; Pulmonary Veins; Scimitar Syndrome; Tomography, X-Ray Computed
PubMed: 25941106
DOI: 10.1007/s11606-015-3358-7 -
Annals of Pediatric Cardiology 2023The images depict a rare case of Scimitar syndrome involving the left lower pulmonary vein.
The images depict a rare case of Scimitar syndrome involving the left lower pulmonary vein.
PubMed: 38343504
DOI: 10.4103/apc.apc_73_23 -
Korean Journal of Radiology Feb 2022Pulmonary arteriovenous malformation (AVM) is a congenital vascular disease in which interventional radiologists can play both diagnostic and therapeutic roles in... (Review)
Review
Pulmonary arteriovenous malformation (AVM) is a congenital vascular disease in which interventional radiologists can play both diagnostic and therapeutic roles in patient management. The diagnosis of pulmonary AVM is simple and can usually be made based on CT images. Endovascular treatment, that is, selective embolization of the pulmonary artery feeding the nidus of the pulmonary AVM, and/or selectively either the nidus or draining vein, has become a first-line treatment with advances in interventional devices. However, some vascular diseases can simulate pulmonary AVMs on CT and pulmonary angiography. This subset can confuse interventional radiologists and referring physicians. Vascular mimickers of pulmonary AVM have not been widely known and described in detail in the literature, although some of these require surgical correction, while others require regular follow-up. This article reviews the clinical and radiologic features of pulmonary AVMs and their mimickers.
Topics: Arteriovenous Fistula; Embolization, Therapeutic; Humans; Intracranial Arteriovenous Malformations; Pulmonary Artery; Pulmonary Veins
PubMed: 35029077
DOI: 10.3348/kjr.2021.0417 -
JTCVS Techniques Dec 2020
PubMed: 34318017
DOI: 10.1016/j.xjtc.2020.08.056 -
Cardiology in the Young Apr 2022Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than...
BACKGROUND
Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present.
METHODS
Our study included patients with scimitar syndrome diagnosed at Texas Children's Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review.
RESULTS
Ninety-eight patients were identified with scimitar syndrome, 89 of which met inclusion criteria. A chromosome analysis or chromosomal microarray analysis was performed in 18 patients (20%). Whole-exome sequencing was performed in six patients following negative chromosomal microarray analysis testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six per cent of the cohort had some type of extracardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extracardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia.
CONCLUSIONS
Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.
Topics: Child; Genetic Testing; Humans; Lung; Pulmonary Veins; Scimitar Syndrome; Vena Cava, Inferior
PubMed: 34210367
DOI: 10.1017/S1047951121002535