An experimental model uses genetics-guided biomechanics and patient-derived stem cells to predict what type of inherited heart defect a child will develop, according a study published in the journal Cell.

A multi-institutional team developing the technology – and led by the Cincinnati Children’s Heart Institute – reports it would let doctors intervene earlier to help patients manage their conditions and help inform future pharmacologic treatment options. In laboratory tests, the model accurately predicts whether mouse models and stem-cell derived heart cells from human patients will develop a hypertrophic or dilated cardiomyopathy.

“This technology would make it possible to predict the eventual cardiac phenotype in pediatric patients and help guide their treatment and future monitoring,” said Jeffery Molkentin, PhD, lead author and a researcher in the Division of Molecular Cardiovascular Biology at Cincinnati Children’s and the Howard Hughes Medical Institute. “It could help when counseling patients about athletic endeavors, in which sudden death can occur with hypertrophic cardiomyopathy. Or it could help decide whether certain patients should consider an implantable cardioverter defibrillator to prevent sudden death as they grow into young adulthood.”

Inherited cardiomyopathy is a genetically diverse group of heart muscle diseases affecting about one of every 500 people. There are two primary clinical manifestations: hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). The diseases involve nearly 1,500 different gene mutations in sarcomeres, the part of the heart muscle that generates tension and contraction.

Effective drug regimens to manage the conditions do not exist, although there is research looking for new drugs. The only effective treatment at present is a heart transplant. This leaves an urgent need to develop new technologies to manage, treat, cure or prevent the diseases.

Researchers continue to develop and test the technology by using it to determine the cardiac disease state of patients with specific mutations in a sarcomere encoding gene.