Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Interrupted aortic arch type A"'
Autor:
Elizabeth Goldmuntz
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:64-72
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6b102d869a8956b0b92b128381465e8
https://doi.org/10.1002/ajmg.c.31774
https://doi.org/10.1002/ajmg.c.31774
Publikováno v:
prenatal diagnosis.
Three cases of interrupted aortic arch of type A (IAA, type A) identified on prenatal ultrasound examination are presented. IAA, type A was a component of 22q11.2 microdeletion syndrome, established by molecular analysis of the aborted fetus`s tissue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a6375ef9e385252f2373d937a438bbd
https://doi.org/10.21516/2413-158-2020-19-4-317-322
https://doi.org/10.21516/2413-158-2020-19-4-317-322
Autor:
Masroor Sharfi, Mohammed Shihata, Antonio R. Cerrudo, Abdul Hadi Al-Ghamdi, Jameel Al-Atta, Amin M Arfi
Here we report an extremely rare case of congenitally corrected transposition of great arteries (CCTGA) associated with Interrupted aortic arch (IAA) type A and ventricular septal defect (VSD) in a preterm baby. Antenatally diagnosed as large VSD and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1abd876827712a7d91d739d6aa418b3f
https://doi.org/10.22541/au.160071375.59680514
https://doi.org/10.22541/au.160071375.59680514
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Syndromic microphthalmia‐9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b1c76e459cde70f83121ccf0585967
https://doi.org/10.1002/mgg3.1377
https://doi.org/10.1002/mgg3.1377
Interrupted Aortic Arch in a Patient with Patient-Prosthesis Mismatch after Aortic Valve Replacement
Publikováno v:
AORTA Journal
This case presents a patient who underwent aortic valve replacement and presented 13 years later with high gradients across the prosthesis, mitral insufficiency, and severe systemic hypertension. Her preoperative workup led to the diagnosis of an int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b5116150beba7acb97bacf785211c12
https://pubmed.ncbi.nlm.nih.gov/32018310
https://pubmed.ncbi.nlm.nih.gov/32018310
Publikováno v:
Radiology Case Reports
Radiology Case Reports, Vol 13, Iss 1, Pp 35-38 (2018)
Radiology Case Reports, Vol 13, Iss 1, Pp 35-38 (2018)
Interrupted aortic arch is an extremely rare congenital malformation representing about 1% of congenital heart disease. Early symptoms usually occur early in the neonatal period and clinical deterioration is often rapid and long-term prognosis is lim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd7729cea6ce81a85e12465e9545381
http://europepmc.org/articles/PMC5851190
http://europepmc.org/articles/PMC5851190
Publikováno v:
JACC: Cardiovascular Interventions. 10:e163-e166
An asymptomatic 34-year-old woman with DiGeorge syndrome and interrupted aortic arch type B presented for care. She had undergone neonatal palliation with a 6-mm interposition graft followed by 16-mm extra-anatomic ascending to descending aortic jump
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41d197768a37646f3dfe0862fe35250a
https://doi.org/10.1016/j.jcin.2017.06.038
https://doi.org/10.1016/j.jcin.2017.06.038
Publikováno v:
Journal of Cardiovascular Computed Tomography. 14:e73-e74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ebf01cd09e8a6f3f03e83d7b460e0da
https://doi.org/10.1016/j.jcct.2019.04.011
https://doi.org/10.1016/j.jcct.2019.04.011
Publikováno v:
Annals of Pediatric Cardiology
Annals of Pediatric Cardiology, Vol 11, Iss 1, Pp 83-85 (2018)
Annals of Pediatric Cardiology, Vol 11, Iss 1, Pp 83-85 (2018)
An adolescent patient with a previous history of surgical repair for interrupted aortic arch type B presented with an asymptomatic, saccular pseudoaneurysm of the proximal, common left carotid artery, identified on a follow-up magnetic resonance angi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b93183af3885b26839ea5ad8935fd525
http://europepmc.org/articles/PMC5803983
http://europepmc.org/articles/PMC5803983
Publikováno v:
The Multimedia Manual for Cardio-Thoracic Surgery.
In this video tutorial, we present our surgical technique for single-stage complete repair of an interrupted aortic arch with ventricular septal defect. The key operative steps, which include dual cannulation, the arch repair, and the intra-cardiac r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d38862f3170134fd042e97ee709128fc
https://doi.org/10.1510/mmcts.2019.033
https://doi.org/10.1510/mmcts.2019.033