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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFSpontaneous conversion of fetal heart block to sinus rhythm post externalized pacemaker placement in an undiagnosed mother with lupus antibodies.
J Matern Fetal Neonatal Med
December 2025
Upstate University Hospital, Syracuse, NY, USA.
The incidence for congenital heart block is estimated as high as 1 in 15,000 live births. Up to 90% of cases of congenital heart block, in which there is no anatomical abnormalities, are attributed to maternal systemic lupus erythematous or Sjögren's disease. 50% of these mothers are asymptomatic at time of diagnosis.
View Article and Find Full Text PDFRight ventricular remodeling in complex congenital heart disease.
Can J Cardiol
January 2025
Research Center, Montreal Heart Institute, Department of Medicine, Université de Montréal, Montreal, Canada; Adult Congenital Heart Centre, Montreal Heart Institute, Université de Montréal, Montreal, Canada. Electronic address:
In congenital heart diseases (CHD) of moderate to great complexity involving the right ventricle (RV), the morphologic RV can be exposed to significant stressors across the lifespan either in a biventricular circulation in a sub-pulmonary or sub-aortic position, or as part of a univentricular circulation. These include pressure and/or volume overload, hypoxia, ischemia, and periprocedural surgical stress leading to remodeling, maladaptation, dilation hypertrophy and dysfunction. This review examines the macroscopic remodeling of the RV in various forms of CHD and explores remodeling trajectories, along with the effects of surgeries and residual lesion repair, in tetralogy of Fallot, Ebstein anomaly, congenitally corrected transposition of the great arteries, transposition of the great arteries with atrial switch surgery, and single ventricle palliated by Fontan.
View Article and Find Full Text PDFBalloon atrioseptostomy for transposition of the great arteries in Europe: characteristics and outcomes.
Rev Esp Cardiol (Engl Ed)
January 2025
Pediatric Cardiology Department, M3C National reference center, Hospital Necker- Enfants Malades, Assistance Publique-Hôpitaux de Paris, University Paris Cité, Paris, France.
Introduction And Objectives: Balloon atrial septostomy (BAS) improves oxygenation in neonates with transposition of the great arteries (TGA) and restrictive foramen ovale. Currently, there is a global shortage of dedicated BAS catheters, while new unmarked catheters have recently become available at some European centers. This study aimed to characterize BAS outcomes using the currently available BAS catheters in Europe.
View Article and Find Full Text PDFHolter electrocardiography findings in Fukuyama congenital muscular dystrophy.
Neuromuscul Disord
January 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Fukuyama congenital muscular dystrophy (FCMD) is the second most common childhood-onset muscular dystrophy in Japan. However, only a few comprehensive studies have investigated cardiac complications associated with FCMD, with none on arrhythmias. The present study evaluated 78 Holter electrocardiograms from 15 patients with FCMD.
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