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Stroke Jan 2024Patent foramen ovale (PFO) is frequently identified in young patients with ischemic stroke. Randomized controlled trials provide robust evidence supporting PFO closure... (Review)
Review
Patent foramen ovale (PFO) is frequently identified in young patients with ischemic stroke. Randomized controlled trials provide robust evidence supporting PFO closure in selected patients with cryptogenic ischemic stroke; however, several questions remain unanswered. This report summarizes current knowledge on the epidemiology of PFO-associated stroke, the role of PFO as a cause of stroke, and anatomic high-risk features. We also comment on breakthrough developments in patient selection algorithms for PFO closure in relation to the PFO-associated stroke causal likelihood risk stratification system. We further highlight areas for future research in PFO-associated stroke including the efficacy and safety of PFO closure in the elderly population, incidence, and long-term consequences of atrial fibrillation post-PFO closure, generalizability of the results of clinical trials in the real world, and the need for assessing the effect of neurocardiology teams on adherence to international recommendations. Other important knowledge gaps such as sex, race/ethnicity, and regional disparities in access to diagnostic technologies, PFO closure devices, and clinical outcomes in the real world are also discussed as priority research topics.
Topics: Humans; Aged; Foramen Ovale, Patent; Treatment Outcome; Neoplasm Recurrence, Local; Stroke; Risk Factors; Ischemic Stroke; Secondary Prevention; Recurrence; Cardiac Catheterization
PubMed: 38134261
DOI: 10.1161/STROKEAHA.123.040546 -
Advances in Experimental Medicine and... 2024Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human genetics and genetic counseling is distinguishing... (Review)
Review
Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human genetics and genetic counseling is distinguishing between isolated and familiar cases without extracardiac features and syndromic cases with the co-occurrence of extracardiac abnormalities, such as developmental delay. Isolated or familial cases tend to show genetic alterations in genes related to important cardiac transcription factors and genes encoding for sarcomeric proteins. By contrast, the spectrum of genes with genetic alterations observed in syndromic cases is diverse. Currently, it points to different pathways and gene networks relevant to the dysregulation of cardiomyogenesis and ASD pathogenesis. Therefore, this chapter reflects the current knowledge and highlights stable associations observed in human genetics studies. It gives an overview of the different types of genetic alterations in these subtypes, including common associations based on genome-wide association studies (GWAS), and it highlights the most frequently observed syndromes associated with ASD pathogenesis.
Topics: Humans; Heart Septal Defects, Atrial; Genome-Wide Association Study; Genetic Predisposition to Disease; Mutation
PubMed: 38884726
DOI: 10.1007/978-3-031-44087-8_24 -
Advances in Experimental Medicine and... 2024The relative simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe... (Review)
Review
The relative simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe the anatomic development of the atrial septum and the venous return to the atrial chambers. Experimental models suggest how mutations and naturally occurring genetic variation could affect developmental steps to cause a defect within the oval fossa, the so-called secundum defect, or other interatrial communications, such as the sinus venosus defect or ostium primum defect.
Topics: Heart Septal Defects, Atrial; Animals; Humans; Disease Models, Animal; Mutation; Atrial Septum; Signal Transduction
PubMed: 38884727
DOI: 10.1007/978-3-031-44087-8_25 -
Clinical Rheumatology Aug 2023
Topics: Humans; Hypertension, Pulmonary; Takayasu Arteritis; Pulmonary Artery; Heart Septal Defects, Atrial
PubMed: 37093404
DOI: 10.1007/s10067-023-06607-7