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Impact of cardiac position, morphology and operative technique on long-term fontan outcomes in heterotaxy.
Eur J Cardiothorac Surg
January 2025
Division of Cardiovascular Surgery, The Labatt Family Heart Centre, The Hospital for Sick Children, Toronto, ON, Canada.
Objectives: This study aimed to assess the outcomes of heterotaxy patients undergone the Fontan operation, focusing on morphological features and surgical techniques.
Methods: Eighty-two consecutive heterotaxy patients who underwent the Fontan operation from 1985 to 2021 were compared to 150 patients with tricuspid atresia (TA) and 144 patients with hypoplastic left heart syndrome (HLHS). The Kaplan-Meier method and Cox proportional hazard model were used to analyze transplant-free survival and predictor of outcomes.
Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
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 PDFArticle Synopsis
- The study investigates how specific genetic variants are linked to heterotaxy syndrome and congenital heart defects (CHD), revealing a complex relationship between genotypes and observed phenotypes.
- A total of 18 missense variants were identified in 26 patients, with most showing CHD and some displaying extra-cardiac issues, emphasizing the genetic diversity in these conditions.
- The findings suggest that missense variants, particularly p.(Met301Ile), play a significant role in disease development, potentially through a loss-of-function mechanism, highlighting the need for further understanding of their pathogenic effects.
Heterotaxy syndrome, dextrocardia, ureteropelvic obstruction, endometriosis, and pulmonary hypertension in an adult with congenital heart defects: a case report.
J Med Case Rep
January 2025
Faculty of Medicine, Damascus University, Damascus, Syria.
Background: Heterotaxia is characterized by an abnormal positioning of the thoracic and/or abdominal organs, resulting in various physiological and hemodynamic implications. Congenital heart disease involves structural irregularities in the heart or major vessels within the chest, leading to functional challenges.
Case Presentation: We present a 26-year-old Arab female patient with a complex medical history involving heterotaxy, dextrocardia, congenital heart disease, and ureteropelvic junction obstruction diagnosed in her first year of life, followed by the identification of endometriosis in her early twenties.
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