Atrial septal defects (ASD) and Patent foramen ovale (PFO) represent the most common congenital heart diseases (CHD) adulthood. These two clinical entities, having different embryological origin, as well as clinical manifestations, clinical course and treatment must be carefully distinguished. Right heart failure and pulmonary hypertension are considered the major determinants of morbidity and mortality in ASD. Conversely, new pathophysiology concepts have been raised in the management of PFO as left atrium cardiopathy. New diagnostic tools, including cardiac magnetic resonance and intracardiac echocardiography have joint transthoracic and transesophageal echocardiography in the diagnostic definition of both ASD and PFO as well as in guiding their percutaneous closure. Moreover, several innovations have been developed in the field of percutaneous ASD and PFO closure devices including new evidence supporting the safety and efficacy of device-based closure. Aim of the present review is to present review we provided and update overview on ASD and PFO, focusing on the novel concepts regarding their pathophysiological and therapeutic aspects.
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http://dx.doi.org/10.1016/j.ejim.2023.12.007 | DOI Listing |
Thorac Cardiovasc Surg
January 2025
Pediatric Cardiology, University Hospital Tuebingen, Tubingen, Germany.
Background: Since patients with congenital heart defects (CHD) frequently require life-long medical care and repeat invasive treatment, radiation exposure during interventional procedures is a relevant issue concerning potential radiation related risks. Therefore, an analysis on radiation data from the German Registry for Cardiac Operations and Interventions in patients with CHD was performed.
Methods: From January 2012 until December 2020 a total of 28,374 cardiac catheter interventions were recorded.
Eur J Med Genet
February 2025
CHU Lille, Institut de Génétique Médicale, F-59000 Lille, France; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address:
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.
View Article and Find Full Text PDFInt J Gen Med
November 2024
Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, People's Republic of China.
World J Pediatr
November 2024
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Background: Birth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.
Methods: We analyzed data from the China National Population-based Birth Defects Surveillance System from 2007 to 2021, we calculated the prevalence rates of selected birth defects, stratified by maternal residence, geographic region, maternal age, and infant sex. The Joinpoint regression model was utilized to assess trends and annual percent changes in prevalence.
J Invasive Cardiol
October 2024
Zhuhai People's Hospital, Zhuhai Hospital, Jinan University, Zhuhai, Guangdong, China; Zhuhai People's Hospital, Zhuhai Clinical Medical College of Jinan University, Zhuhai, Guangdong, China. Email:
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