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Background: A Gerbode defect is a rare communication between the left ventricle and right atrium. Patients with congenital Gerbode defects require prompt diagnosis and medical therapy to temporize their disease until more definitive surgical correction can occur.
Case Summary: A 3-day-old male infant presented to urgent care after his mother noticed episodic cyanosis of the lips and tachypnea that self-resolved. On echocardiogram, he was found to have a Gerbode type 2 defect with a shunt from the left ventricle to the right atrium across the septal leaflet of the tricuspid valve.
Discussion: These rare defects are frequently missed at birth and are challenging to diagnose given their broad cardiac presentation.
Take-home Messages: Cardiac causes must be included in early the differential diagnosis when evaluating cyanosis and respiratory chief complaints. Echocardiogram is valuable as a diagnostic marker for the progression of left-to-right shunts.
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http://dx.doi.org/10.1016/j.jaccas.2025.104742 | DOI Listing |
Circ Cardiovasc Interv
September 2025
Department of Biomedical Sciences, Humanitas University, Pieve Emanuele-Milan, Italy (F.T., G.A., M.G., K.S., D.D., G.S., M.C.).
Mitral regurgitation is the most common valve disease worldwide. Despite its wide success in inoperable or high-risk surgical patients, transcatheter edge-to-edge repair remains limited by some anatomic features and the not negligible rate of significant residual regurgitation. Transcatheter mitral valve replacement has emerged as a viable alternative that promises to overcome these issues, but its development has been progressing slowly.
View Article and Find Full Text PDFEClinicalMedicine
October 2025
Department of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, China.
Background: Paediatric patients who underwent surgery for mitral regurgitation (MR) have a high risk of recurrence or death; however, no prediction tool has been developed to risk-stratify this challenging subpopulation.
Methods: In this multicentre cohort study, paediatric patients undergoing surgery for congenital MR in Shanghai Children's Medical Center in January 1st, 2009-December 31st, 2022 were included for analysis while those had a combination with infective endocarditis, anomalous left coronary artery from the pulmonary artery, rheumatic valvular disease, connective tissue disease, or single ventricle were excluded. A Cox regression model predictive of the primary outcome (a composite of mortality or mitral valve [MV] re-operation) was derived and converted to a point-based risk score.
Stem Cell Res
September 2025
Department of Cardiology, Affiliated Hospital of Jining Medical University, Shandong, China; Shandong Provincial Key Medical and Health Discipline of Cardiology Affiliated Hospital of Jining Medical University, Shandong, China; Key Laboratory of Cell and Biomedical Technology of Shandong Province, C
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary infiltrative cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium, which may extend to the left ventricle in the advanced stages. Clinically, the condition is commonly associated with right ventricular dilation, malignant arrhythmias, and an increased risk of sudden cardiac death. In this study, we successfully established induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of ARVC patients carrying a heterozygous LMNA gene mutation (c.
View Article and Find Full Text PDFWorld J Pediatr Congenit Heart Surg
September 2025
Department of Thoracic and Cardiovascular Surgery, Sejong General Hospital, Bucheon, Korea.
: This study aimed to compare the long-term outcomes of a modified réparation à l'étage ventriculaire (REV) and the Rastelli repair for ventricular septal defect (VSD) and pulmonary outflow tract obstruction without ventriculoarterial concordance. : The study included 100 consecutive patients who underwent a modified REV ( = 50) or Rastelli repair ( = 50) for transposition of the great arteries, double outlet right ventricle, or double outlet left ventricle with VSD and pulmonary outflow tract obstruction. The mean ages of the patients who underwent the modified REV and Rastelli repair were 2.
View Article and Find Full Text PDFAm J Physiol Heart Circ Physiol
September 2025
Division of Pediatric Critical Care, Department of Pediatrics, University of California, San Francisco, USA.
Right ventricular (RV) failure is the primary cause of death among patients with pulmonary arterial hypertension (PAH). Patients with congenital heart disease-associated PAH (CHD-PAH) demonstrate improved outcomes compared to patients with other forms of PAH, which is related to the maintenance of an adaptively hypertrophied RV. In an ovine model of CHD-PAH, we aimed to elucidate the cellular, microvascular, and transcriptional adaptations to congenital pressure overload that support RV function.
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