Results 81 to 90 of about 11,531 (208)
Atresia of the Aortic Arch in 4 year old child: a clinical case study.
Frontiers in Pediatrics, 2015 Atresia of the aortic arch is a rare congenital heart defect with a high mortality when associated with other intracardiac defects. Cardiac Magnetic Resonance (CMR) provides the exact anatomy of the aortic arch and collateral circulation and is useful to
Vittoria eNigro Stimato, Cecile eTissot
doaj +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
A rare case of right aortic arch with mirror-image branching and vascular ring in an adult patient
Radiology Case ReportsA right-sided aortic arch with mirror-image branching is a rare vascular anomaly, often associated with congenital heart defects. However, its occurrence with a vascular ring in the absence of cardiac abnormalities is extremely rare.
Salma El Aouadi +5 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
, 2022 ObjectiveThe aim of the study was to investigate surgical modalities and outcomes in patients with type A aortic dissection involving arch anomalies.MethodPatients with type A aortic dissection who underwent surgical treatment at our center between ...
Xin Li (51274) +14 more
core +1 more source
Multidetector Computed Tomography Evaluation of Anomalies of Aortic Arch Branching
, 2020 Background: Anatomic variations in the branching pattern of the aortic arch is known for a long time. Advances in modern medicine have led to an increasing number of endovascular and vascular reconstructive procedures where the pre-procedural information
Neha +4 more
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Aortic arch malformations [PDF]
, 2018 Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring.
Kellenberger, Christian
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, 2022 ObjectiveThe aim of the study was to investigate surgical modalities and outcomes in patients with type A aortic dissection involving arch anomalies.MethodPatients with type A aortic dissection who underwent surgical treatment at our center between ...
Xin Li (51274) +14 more
core +1 more source
Rare case of vascular ring with Kommerell diverticulum mimicking uncontrolled asthma
Respirology Case Reports, 2020 Anomalies of the aortic arch associated with Kommerell diverticulum (KD) are rare congenital malformations. Symptomatic thoracic vascular rings presenting in adults are rare.
Ahmed Ben Saad +5 more
doaj +1 more source
Incidence of aortic arch anomalies in patients with thoracic aortic dissections.
, 2013 BACKGROUND AND AIM OF STUDY: Traditionally aortic arch anomalies have been viewed as a normal and clinically insignificant; therefore, they are often overlooked by radiologists and go unreported.
Moraca, Robert J +3 more
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