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Chronic Cough, Dyspnea, and a Novel CCDC39 Variant: A Case Report of Heterotaxy Syndrome Without Cardiac Anomalies and Associated Primary Ciliary Dyskinesia.
Cureus
December 2024
Pulmonology, Algemeen Ziekenhuis Glorieux, Ronse, BEL.
Heterotaxy syndrome is characterized by abnormal left-right arrangement of thoracoabdominal organs and is frequently associated with complex cardiac anomalies. However, cases with predominant extracardiac manifestations are increasingly recognized. This report describes a 20-year-old female of North African descent with consanguineous parentage, who presented with chronic cough and exertional dyspnea persisting over several years.
View Article and Find Full Text PDFMixed reality for preoperative planning and intraoperative assistance of surgical correction of complex congenital heart defects.
J Thorac Cardiovasc Surg
January 2025
Division of Cardiology, The Hospital for Sick Children, Toronto, ON, Canada; Center for Image Guided Innovation and Therapeutic Intervention, The Hospital for Sick Children, Toronto, ON, Canada.
Objectives: Mixed reality (MixR) is an innovative visualization tool that presents virtual elements in a real-world environment, enabling real-time interaction between the user and the combined digital/physical reality. We aimed to explore the feasibility of MixR in enhancing preoperative planning and intraoperative guidance for the correction of various complex congenital heart defects (CHDs).
Methods: Patients underwent cardiac computed tomography or cardiac magnetic resonance and segmentation of digital imaging and communications in medicine (DICOM) images was performed.
Background/objectives: The failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy". biallelic variants have recently been associated with heterotaxy syndrome and congenital heart defects (CHD). However, the genotype-phenotype correlations and the underlying pathogenic mechanisms remain poorly understood.
View Article and Find Full Text PDFPurpose Of Review: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating heritable channelopathy that can lead to sudden cardiac death in children and young adults. This review aims to explore genetics, the cardiac and extracardiac manifestations of mutations associated with CPVT, and the challenges involved with managing phenotypically variable variants.
Recent Findings: The understanding of the genetics and mechanisms of CPVT continues to grow with recent discoveries including alternative splicing of cardiac TRDN and calmodulin gene variants.
Practical approach to extracardiac findings in CT and MR for the non-radiologist.
Pediatr Radiol
January 2025
Department of Radiology, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Cross-sectional cardiac imaging plays an essential role in the evaluation of pediatric patients with congenital and acquired heart disease. While the focus of cardiac imaging is primarily on evaluating cardiac structures, it also provides valuable insights into extracardiac structures and associated abnormalities. The radiologists and cardiologists interpreting these exams play a critical role in recognizing these findings and providing recommendations for follow-up testing when indicated.
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