Results 71 to 80 of about 60,528 (234)
International Journal of Gynecology &Obstetrics, Volume 170, Issue 1, Page 370-377, July 2025.Abstract Objective This study aimed to explore genetic etiologies of conotruncal defects (CTDs) in fetuses by analyzing the results of different genetic tests and to assess pregnancy outcomes of fetuses with CTD in a Chinese prenatal cohort. Methods A total of 146 fetuses that underwent invasive prenatal genetic testing for CTD at the prenatal ...
Min Li +5 more
wiley +1 more source
Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome [PDF]
, 2016 Transparency document related to this article can be found online at http://dx.doi.org/10.1016/j.bbrc.2015.10.014Induced pluripotent stem cells (iPSCs) represent today an invaluable tool to create disease cell models for modeling and drug screening ...
Ferreira, L. +3 more
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Shone’s syndrome in adult. Report of a case
Revista Cubana de Cardiología y Cirugía Cardiovascular, 2011 Shone´s syndrome is a rare entity characterized by four basics defects: supravalvular mitralring, valvular mitral stenosis by a parachute mitral valve, subaortic stenosis and aortic coarctation.This entity commonly curses with its incomplete form and ...
Juan Valiente Mustelier +3 more
doaj
Diffuse Supravalvular Aortic Stenosis: Surgical Repair in Adulthood
Cardiology Research and Practice, 2009 We present the case of a 54-year-old woman in which a diffuse congenital supravalvular aortic stenosis (SVAS) was associated with a severe aortic valve incompetence and heavy calcification of the aortic annulus.
Giovanni Ferlan +5 more
doaj +1 more source
La Pediatria Medica e Chirurgica, 2015 Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis.
Savina Mannarino +5 more
doaj +1 more source
Breathing With Half a Pulmonary Circuit: Three Cases of Unilateral Pulmonary Artery Agenesis
Respirology Case Reports, Volume 13, Issue 7, July 2025.We present three cases of unilateral pulmonary artery atresia (UPAA) with varying clinical presentations and radiological findings, highlighting the diverse manifestations of this rare condition and discussing the current understanding of its pathophysiology, diagnostic approaches, and management strategies. ABSTRACT Unilateral pulmonary artery atresia
Vignesh Kumar Kathiresan +2 more
wiley +1 more source
Distribuição por sexos das cardiopatias congénitas.
Acta Médica Portuguesa, 1994 For 17 years, 4150 infants and children under 13 years of age with final diagnosis of well defined congenital heart disease were studied and the pattern of sex differences are reported.
F Sampayo, F F Pinto
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Journal of Cardiothoracic Surgery, 2020 Transposition of the great arteries (TGA) and interruption of the aortic arch (IAA) are uncommon congenital heart diseases. The association between TGA and IAA is rare.
Qiteng Xu +3 more
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Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui +12 more
wiley +1 more source
Anatomic reconstruction of recurrent aortic arch obstruction in children [PDF]
, 2017 Objective: Anatomical reconstruction of the aortic arch following aortic arch surgery is challenging. The placement of an extra-anatomical aortic bypass has been proposed for these difficult cases.
Bettex, Dominique +5 more
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