Metformin intervention prevents cardiac dysfunction in a murine model of adult congenital heart disease.

Objective: Congenital heart disease (CHD) is the most frequent birth defect worldwide. The number of adult patients with CHD, now referred to as ACHD, is increasing with improved surgical and treatment interventions. However the mechanisms whereby ACHD predisposes patients to heart dysfunction are still unclear.

Point mutations in murine phenocopy human congenital heart disease and induce pathogenic Wnt signaling.

Mutations in the gene are a main cause of congenital heart disease. Several studies have addressed the phenotypic consequences of disrupting the gene locus, although animal models to date failed to recapitulate the full spectrum of the human disease. Here, we describe a new point mutation murine model, akin to its human counterpart disease-generating mutation.

A novel conditional mouse model for Nkx2-5 reveals transcriptional regulation of cardiac ion channels.

Nkx2-5 is one of the master regulators of cardiac development, homeostasis and disease. This transcription factor has been previously associated with a suite of cardiac congenital malformations and impairment of electrical activity. When disease causative mutations in transcription factors are considered, NKX2-5 gene dysfunction is the most common abnormality found in patients.