Ray E. Hershberger

This study identifies barriers and needs for genetic evaluation in dilated cardiomyopathy through a survey and discussion with cardiologists, highlighting the need for improved reimbursement, education, and infrastructure.

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

The paper identifies a mitofusin 2 mutation (R400Q) that causes mitophagic cardiomyopathy by impairing mitochondrial fusion and Parkin recruitment, distinct from its role in CMT2A.

The paper examines cardiac mechanics in genetically at-risk first-degree relatives of DCM patients, finding that older relatives with variants of uncertain significance or pathogenic variants have reduced global longitudinal strain.

The paper curates and classifies genetic evidence for dilated cardiomyopathy (DCM), identifying 19 genes with strong or moderate evidence and highlighting gaps in understanding.