Applying deep-learning image segmentation and fractal dimension analysis to cardiac MRI data from 48,118 UK Biobank participants, researchers mapped the genetic landscape of right ventricular (RV) trabeculation — the finger-like muscular ridges lining the heart's inner wall. They identified 52 common genetic loci and 45 genes carrying protein-altering variant burdens, implicating sarcomeric proteins (including MYH6), cytoskeletal organization, and early cardiac patterning. Crucially, CFTR — typically associated with cystic fibrosis and airway mucus regulation — emerged as an unexpected RV-specific signal, suggesting cardiopulmonary crosstalk in ventricular remodelling.
This preprint, not yet peer-reviewed, represents one of the largest cardiac morphology genome-wide association studies to date and meaningfully advances our understanding of RV biology, a historically understudied chamber compared to the left ventricle. The CFTR finding is particularly provocative: it raises the possibility that chronic respiratory loading or airway-linked signalling pathways leave a measurable genomic imprint on RV structure in the general adult population — not just in overt lung disease. For longevity medicine, RV trabeculation complexity correlating with systolic function and cardiometabolic phenotypes suggests it could eventually serve as an imaging biomarker stratifying cardiovascular risk. Limitations include the observational design, the predominantly European UK Biobank ancestry, and the cross-sectional nature preventing causal inference. Whether trabecular complexity is adaptive or maladaptive in specific genetic contexts remains unresolved. If findings survive peer review, they could reshape congenital heart disease screening and cardiopulmonary risk stratification.