Genetic variants linked to heart transplant, arrhythmia risks in Korean patients with cardiomyopathy

A study found that specific genetic variants in Korean patients with dilated cardiomyopathy were associated with heart transplant or death, arrhythmia risk and recovery of heart function.

The Korea Disease Control and Prevention Agency’s National Institute of Health announced on the 22nd the results of an analysis of genetic information and clinical outcomes in 202 patients with idiopathic dilated cardiomyopathy, conducted with Asan Medical Center and Chungbuk National University College of Medicine. The study was published in the international journal The Journal of Heart and Lung Transplantation.

Dilated cardiomyopathy is a condition in which the heart enlarges and its muscle weakens, preventing it from pumping blood effectively. Some patients remain stable for a long time, while others progress to severe heart failure and may need a heart transplant.

The researchers analyzed genes using domestic heart failure and heart transplant registry data from 56 heart transplant recipients and 146 outpatients. They found genetic variants that may affect disease development in 64 patients, or 31.7% of the total.

In particular, patients with LMNA variants had a 14.65-fold higher risk of heart transplant or death, an 8.49-fold higher risk of ventricular tachycardia or ventricular fibrillation, and a 7.49-fold higher risk of atrial fibrillation. By contrast, patients with TNNT2 variants were 6.03 times more likely to have a recovery of at least 10% in left ventricular ejection fraction.

These differences remained after accounting for factors including patients’ sex and age at diagnosis. In the heart transplant group, LMNA variants were the most common, at 19.6%, while no TNNT2 variants were found.

Lee Sang-eon, a professor at Asan Medical Center, said, “Although patients with dilated cardiomyopathy can have very different disease courses despite the same diagnosis, this study provides clinical evidence needed to use genetic information to assess patients at high risk of heart transplant or arrhythmia early and develop patient-specific follow-up and treatment strategies.”

Jeon Jae-pil, director of the Division of Future Medicine Research at the National Institute of Health, said, “This achievement establishes a basis for assessing risk by gene by linking the genetic characteristics of Korean patients with idiopathic dilated cardiomyopathy to their clinical outcomes. We will expand precision medicine research using Korean genomic and clinical data.”

The researchers said they expect the findings to help identify patients at high risk of arrhythmia early and inform consideration of implantable cardioverter-defibrillator (ICD) use.