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SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.
J Pediatr
November 2024
Pediatric Heart Lung Center and Section of Pulmonary Medicine, Department of Pediatrics, University of Colorado Anschutz School of Medicine and Children's Hospital Colorado, Aurora, CO.
Objective: To characterize clinical, hemodynamic, imaging, and pathologic findings in children with pulmonary arterial hypertension (PAH) and variants in SRY-box transcription factor 17 (SOX17), a novel risk gene linked to heritable and congenital heart disease-associated PAH.
Study Design: We assembled a multi-institutional cohort of children with PAH and SOX17 variants enrolled in the Pediatric Pulmonary Hypertension Network (PPHNet) and other registries. Subjects were identified through exome and PAH gene panel sequencing.
Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.
JACC Basic Transl Sci
July 2024
Division of Cardiology, Department of Medicine, University of Illinois, Chicago, Illinois, USA.
The heritability of atrial fibrillation (AF) is well established. Over the last decade genetic architecture of AF has been unraveled by genome-wide association studies and family-based studies. However, the translation of these genetic discoveries has lagged owing to an incomplete understanding of the pathogenic mechanisms underlying the genetic variants, challenges in classifying variants of uncertain significance (VUS), and limitations of existing disease models.
View Article and Find Full Text PDFGenetic testing in early-onset atrial fibrillation.
Eur Heart J
September 2024
Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, 415 Main St, 02412, Cambridge, MA, USA.
Article Synopsis
- * The 2023 ACC/AHA guidelines recommend genetic testing for AF patients aged 45 or younger to enhance personalized care and prognosis by identifying specific genetic defects.
- * Challenges in genetic testing for AF include interpreting uncertain results, financial and insurance barriers, and the need for improved training and standardization in testing procedures.
Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias.
Circ Genom Precis Med
June 2024
Demoulas Center for Cardiac Arrhythmias (S. Khurshid, P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.
Article Synopsis
- The study investigates the genetic basis of supraventricular tachycardias, focusing on atrioventricular nodal reentrant tachycardia (AVNRT) and atrioventricular accessory pathways/reciprocating tachycardia (AVAP/AVRT).
- Through multiancestry meta-analyses of genome-wide association studies, researchers identified significant genetic loci associated with AVNRT and AVAP/AVRT, implicating specific genes in these cardiac conditions.
- The results suggest that gene regions related to ion channels and cardiac development play crucial roles in susceptibility to supraventricular tachycardias, potentially influencing other cardiovascular issues such as atrial fibrillation
Heritability of Atrial Fibrillation Among Swedish Adoptees.
Circ Genom Precis Med
June 2024
Department of Clinical Sciences, Center for Primary Health Care Research, Lund University/Region Skåne, Malmö, Sweden.
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