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| http://dx.doi.org/10.24875/ACM.20000284 | DOI Listing |
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A case report of a rare cardiac anomaly associated with Ellis-van Creveld syndrome: common atrium, partial atrioventricular septal defect, and hypoplastic left ventricle.
Eur Heart J Case Rep
January 2025
Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka 594-1101, Japan.
Background: A partial atrioventricular septal defect (AVSD) with a hypoplastic left ventricle and common atrium is a rare combination of cardiac anomalies that can be associated with Ellis-van Creveld (EVC) syndrome.
Case Summary: A female neonate with EVC syndrome was diagnosed with an unbalanced AVSD and hypoplastic left ventricle. Pulmonary artery banding and ductus ligation were performed at 23 days after birth.
Successful biventricular repair following strategic treatment focused on left ventricular growth in a patient with hypoplastic left heart complex and unbalanced right dominant atrioventricular septal defect: a case report.
Cardiol Young
January 2025
Department of Pediatric Cardiovascular Surgery, Osaka City General Hospital, Osaka, Japan.
A patient with borderline left ventricle successfully underwent biventricular repair following a staged surgical approach to promote left ventricular growth. Despite initial concerns about left ventricle size, apex formation and adequate size of atrioventricular valve indicated potential for future growth. The patient demonstrated significant left ventricular growth, resulting in stable biventricular circulation and a favourable outcome over a three-year postoperative follow-up period.
View Article and Find Full Text PDFCardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFSerial changes of systemic ventricular function and atrioventricular valve function in patients with failing Fontan.
Eur J Cardiothorac Surg
January 2025
Department of Congenital and Pediatric Heart Surgery, German Heart Center Munich, University Hospital of Technische Universität München, Munich Germany, Division of Congenital and Pediatric Heart Surgery, University Hospital of Munich, Ludwig-Maximilians-Universität München, Munich, Germany, Europäisches Kinderherzzentrum München, Munich, Germany.
Objectives: This study investigated the longitudinal changes in ventricular function and atrioventricular valve function to clarify the timing and the mechanisms of failing Fontan.
Methods: Patients who underwent total cavopulmonary connection between 1994 and 2023 were reviewed, and longitudinal echocardiographic examinations of ventricular function and atrioventricular valve regurgitation were analyzed.
Results: A total of 650 patients were included.
Racial disparities in timing and outcomes for patients undergoing staged single ventricle palliation: a single institution report.
Cardiol Young
January 2025
Department of Pediatrics, Division of Cardiology, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA, USA.
Background: Racial disparities in healthcare have been well documented in the United States. We hypothesise that there will be a racial variance in different clinical variables in single-ventricle patients through stages of palliation.
Materials And Methods: Retrospective single-centre study stratified all single-ventricle patients who reached stage 2 palliation by race: Black and White.
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