Congenital heart defects articles from across Nature Portfolio

Lentiviral massively parallel reporter assay (lentiMPRA) analysis of cardiac cis-regulatory elements characterizes the effects of noncoding de novo variants identified in congenital heart disease. EpiCard is a model for variant prioritization.

A study shows that congenital heart defects in Down syndrome are in part caused by increased dosage of the DYRK1A gene, which lies on chromosome 21, leading to reduced proliferation and mitochondrial dysfunction in cardiomyocytes.

Managing high-risk newborns with critical congenital heart disease (CCHD) in the delivery room is a unique challenge, characterized by complex physiology, heightened urgency, the coordinated efforts of multiple medical teams, and depending on the facility, the infrequent occurrence of such cases. Currently, there is a lack of unified guidance for resuscitation of these newborns in the delivery room. In this commentary, we advocate for an integrated approach involving maternal-fetal medicine specialists, fetal cardiologists, neonatologists, and cardiac intensivists. The proposed approach emphasizes collaborative pre-delivery planning, focusing on anticipated risk factors, postnatal physiology, and clinical management plans. We stress the importance of simulation-based education specifically addressing CCHD scenarios and advocate for research collaborations to establish evidence-based guidelines and track outcomes. Ultimately, a comprehensive, collaborative, and standardized approach, involving prenatal coordination, communication, and education, is essential for optimizing the delivery room management of neonates with CCHD.

Virtual reality is a fast-evolving technology that already has several promising applications in medicine. In this Clinical Outlook, we discuss the current evidence and the future challenges for virtual reality applications in cardiac interventions. The incorporation of virtual reality in daily practice will inevitably make clinical care more robust, patient-centred and safe.

Two new papers describe the transcriptional programmes of congenital heart disease and dilated and hypertrophic cardiomyopathy assessed using single-nucleus RNA-sequencing technologies.