Cardiovascular genetics

Rupture or dissection of the aorta is often fatal. Tcheandjieu and colleagues now identify key pathways underlying aortic dilatation, a common prelude to acute aortic events, and assess the utility of a polygenic risk score to identify those at highest risk of aortic death in whom prophylactic surgical repair may be beneficial.

A novel approach to assess the network of interactions between GATA4 and TBX5, which are both implicated in congenital heart disease, has led to the discovery of a gene with a previously unknown role in heart development.

Two new studies show that titin haploinsufficiency and the toxicity of aggregated truncated titin protein together contribute to the pathogenesis of dilated cardiomyopathy caused by truncating variants in the gene encoding titin.

A form of adenine base editing has been used in mouse embryos to correct a genetic variant associated with hypertrophic cardiomyopathy. This approach is potentially safer than other forms of germline gene editing, which carry a risk of off-target editing and the introduction of indels.

Genomic data are increasingly being integrated into health care. We propose an outline for structured training in cardiovascular genomics, recognizing the growing need for a cardiovascular genomics subspecialty and cardiovascular subspecialists who incorporate genomics advances to optimize the management of heritable cardiovascular diseases.

The histone reader PHF7 binds to cardiac super-enhancers and is a strong activator of the reprogramming of adult cardiac fibroblasts to induced cardiac-like myocytes.