Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome.

Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by heterozygous pathogenic variants in the Myelin Regulatory Factor (MYRF) gene. The complete spectrum of disease characteristics and prevalence is not yet defined. This report documents the first known cases of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in MYRF-associated Cardiac-Urogenital Syndrome (MYRF-CUGS).

Comparative analysis of diagnostic accuracy in adult congenital heart disease: A study of three physician groups and ChatGPT.

This research letter evaluates the diagnostic accuracy of three physician groups-pediatric cardiologists, adult congenital heart disease (ACHD) specialists, and general cardiologists-and compares it to the performance of an AI (Artificial Intelligence) LLM model. Based on eight targeted questions in adult congenital heart disease, the analysis highlights significant disparities in correct answer rates, with congenital specialists achieving the highest accuracy and the AI model - the lowest.

CD73 restrains mutant β-catenin oncogenic activity in endometrial carcinomas.

Missense mutations in exon 3 of , the gene encoding β-catenin, are associated with poor outcomes in endometrial carcinomas (EC). Clinically, mutation status has been difficult to use as a predictive biomarker as β-catenin oncogenic activity is modified by other factors, and these determinants are unknown. Here we reveal that CD73 restrains the oncogenic activity of exon 3 β-catenin mutants, and its loss associates with recurrence.

SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.

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.

A Single-Center Review of Clinical Outcomes After Transcatheter Relief of Superior Vena Cava Stenosis in a Pediatric and Young Adult Population.

Background: The suspected etiology of superior vena cava (SVC) obstruction is predominantly iatrogenic. Transcatheter interventions relieve stenosis with good long-term results, although there is a paucity of published data in pediatrics. We aim to describe patient characteristics and clinical outcomes after transcatheter SVC intervention at a single-center pediatric quaternary care center.