Results 61 to 70 of about 4,827 (185)

Realignment of the ventricular septum in tetralogy of Fallot using (partial) direct closure of the ventricular septal defect: Long-term follow-up and comparison to conventional patch repair

Annals of Pediatric Cardiology, 2023
Objectives : Aortic dilatation and regurgitation after surgical repair of tetralogy of Fallot (TOF) is known, and beside other factors, mainly addressed to an intrinsic aortopathy.
Alexander Auer, Alessia Callegari, Vanessa Sitte, Rene Pretre, Hitendu Dave, Martin Christmann   +5 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

A 13 Year-old Girl with Complete AVSD (Intermediate subtype) and Total AV Block

Qanun Medika: Jurnal Kedokteran Fakultas Kedokteran Universitas Muhammadiyah Surabaya
Atrioventricular septal defects (AVSD) constitute a spectrum of anomalies caused by abnormal endocardial cushion defects. Many classifications have been used to describe AVSD. There is generally subclassified into complete and partial forms.
I Ketut Alit Utamayasa, Prima Hari Nastiti, Taufiq Hidayat, Mahrus Abdur Rahman   +3 more
doaj   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

Molecular Cytogenetics, 2021
Aims There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation between the ...
Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Yuying Jiang   +8 more
doaj   +1 more source

Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

Frontiers in Pediatrics, 2021
Background: Atrioventricular septal defect (AVSD) is a cardiac malformation that accounts for up to 5% of total congenital heart disease, occurring with high frequency in people with Down Syndrome (DS).
Ioana-Cristina Olariu, Ioana-Cristina Olariu, Anca Popoiu, Anca Popoiu, Andrada-Mara Ardelean, Andrada-Mara Ardelean, Raluca Isac, Raluca Isac, Ruxandra Maria Steflea, Tudor Olariu, Adela Chirita-Emandi, Adela Chirita-Emandi, Ramona Stroescu, Ramona Stroescu, Mihai Gafencu, Mihai Gafencu, Gabriela Doros, Gabriela Doros   +17 more
doaj   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

The left atrioventricular valve in partial atrioventricular septal defect: management strategy and surgical outcome [PDF]

European Journal of Cardio-Thoracic Surgery, 2004
To test the hypothesis that in patients with a partial atrioventricular septal defect (PAVSD) and a competent left atrioventricular valve (LAVV), sutures should be placed across the line of apposition of the superior and inferior bridging leaflets, septal commissure (SC), to prevent the development of regurgitation.
Amira A A, Al-Hay, Christopher R, Lincoln, Darryl F, Shore, Elliot A, Shinebourne   +3 more
openaire   +2 more sources

Repair of Partial Atrioventricular Septal Defect via Vertical Right Axillary Thoracotomy (VRAT) in Eleven-Year-Old

, 2023
The patient is an eleven-year-old, 38.8 kg boy who was diagnosed with partial atrioventricular septal defect and has been followed clinically with minimal symptoms. Past medical and surgical history included ADHD and need for surgery for club feet.
Sameh M. Said (8697503), Ali H Mashadi (14332989)   +1 more
core   +1 more source