Results 41 to 50 of about 2,970 (174)
Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
Case Reports in Genetics, 2011 This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and ...
Rachel O'Connor +7 more
doaj +1 more source
Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes
The Journal of Physiology, EarlyView.Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone +1 more
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
A cause of new onset isolated right heart failure in sixtyfive years old patient: Ebstein anomaly
Cerrahpaşa Medical Journal, 2019 Sixty five years old male with an unknown cardiac history was admitted to our clinic with two months of weakness, fatigue, leg and abdominal swelling. Electrocardiography findings were normal except P pulmonale in inferior derivations.
Yalçın Velibey +6 more
doaj +1 more source
JACC: Case Reports, 2021 A 21-year-old man presented with new-onset seizures and brain abscess. Echocardiography and cardiac magnetic resonance imaging revealed underlying Ebstein anomaly, secundum atrial septal defect, and cor triatriatum dexter.
Andrei Minciunescu, MD +4 more
doaj +1 more source
Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 4, Page 737-743, October 2026.Abstract Objectives Malnutrition in patients with critical congenital heart disease (CCHD) is associated with worse outcomes, however, feeding challenges, and changes in metabolic demands obscure the relationship between nutrient intake and growth in this patient population.
Colin R. Tang‐Whitmore +8 more
wiley +1 more source
Partial PFO Closure for Persistent Hypoxemia in a Patient with Ebstein Anomaly
Case Reports in Cardiology, 2015 Ebstein anomaly is characterized by deformities of the anterior leaflet of the tricuspid valve and atrialization of the right ventricle. Patients with severe tricuspid regurgitation are recommended to have tricuspid valve surgery with concomitant atrial ...
S. A. Zuberi +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source