Results 111 to 120 of about 53,129 (300)

Holt-Oram Syndrome: A Rare Variant

Iranian Journal of Medical Sciences, 2017
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects.
Binoy Shankar, Euden Bhutia, Dinesh Kumar, Sunil Kishore, Shakti Pad Das   +4 more
doaj  

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Eisenmenger syndrome in adults: ventricular septal defect, truncus arteriosus, univentricular heart.

Journal of the American College of Cardiology, 1999
Morbidity and mortality patterns were characterized in adults with the Eisenmenger syndrome when two ventricles with a ventricular septal defect (VSD) joined two great arteries or one great artery, or when one ventricle joined two great arteries.Although afterload in these disorders differs, clinical differences have not been defined.Seventy-seven ...
Niwa, Koichiro, Perloff, Joseph K, Kaplan, Samuel, Child, John S, Miner, Pamela D   +4 more
openaire   +2 more sources

Unusual echocardiographic finding leading to diagnosis of pulmonary sequestration [PDF]

, 2008
Pulmonary sequestration is an embryonic mass of non- functioning lung tissue that does not communicate with the tracheobronchial tree and has a reported incidence of 0.15%-6.4% of all the pulmonary malformations.
Arora, R., Baloria, A., Mishra, Smita, Vinayak, S.   +3 more
core  

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +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

Understanding the role of Shroom3 in the developing mouse myocardium.

PLoS ONE
Loss of actin cytoskeleton control can hinder integral developmental and physiological processes and can be the basis for a subset of developmental defects.
Jennifer L Carleton, Rami R Halabi, Jessica A Willson, Timothy F Plageman, Darren Bridgewater, Qingping Feng, Thomas A Drysdale   +6 more
doaj   +1 more source

Diastolic And Systolic Right Ventricular Dysfunction Precedes Left Ventricular Dysfunction In Patients Paced From Right Ventricular Apex [PDF]

, 2006
Background: Cardiac dysfunction after right ventricular (RV) apical pacing is well known but its extent, time frame of appearance and individual effect on left ventricular (LV), RV systolic and diastolic parameters has not evaluated in a systematic ...
Bansal, Sandeep, M, Hasan, MK, Makharia, Puri, Aniket, RK, Saran, SK, Dwivedi, VK, Puri, VS, Narain   +7 more
core  

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