Confirmation of association of LMNA·TNNT2 gene mutations in Korean patients with dilated cardiomyopathy

(Seoul = Yonhap News) Reporter Seong Seong-ho = A genetic mutation that causes heart disease, which is prominent in Koreans, has been identified.

The Korea Disease Control and Prevention Agency's National Institute of Health announced on the 22nd that as a result of analyzing the genetic information and clinical progress of Korean idiopathic dilated cardiomyopathy patients with researchers at Asan Medical Center in Seoul and Chungbuk National University School of Medicine, they confirmed that specific genetic mutations are associated with heart transplantation, death, arrhythmia, and recovery of cardiac function.

Dilated cardiomyopathy is a disease in which the heart enlarges and the strength of the heart muscle weakens, preventing it from smoothly pumping blood throughout the body. Depending on the patient, the condition may remain stable for a long time, but some may develop severe heart failure and require a heart transplant.

It has been known that genetic factors affect the occurrence and progression of dilated cardiomyopathy, but most of the existing studies were conducted on Western people, so there was a lack of evidence on East Asian populations, including Koreans.

Accordingly, the domestic researchers analyzed the genetic information of 202 patients (56 heart transplant cohort, 146 outpatient cohort) with idiopathic dilated cardiomyopathy who were under 60 years of age and had no other causes such as ischemic, valvular, or congenital disease.

As a result of the analysis, genetic mutations that could affect the development of dilated cardiomyopathy were identified in 64 patients, approximately 32% of all patients.

In particular, patients with LMNA gene mutations had a high risk of receiving a heart transplant, dying, and developing arrhythmia.

An official from the Korea Disease Control and Prevention Agency explained, “After genetic analysis, we later checked the clinical information of the patients and found that many of them had received heart transplants or had died.”

On the other hand, patients with TNNT2 gene mutations recovered heart function in relatively many cases.

The researchers explained that these results differed even when considering the patient's gender and age at diagnosis.

The researchers expected that in the future, the results of this study could be used as a reference to use genetic testing to early identify patients who are likely to develop the disease quickly and to develop a test and treatment plan for each patient.

Professor Sang-eon Lee of Asan Medical Center in Seoul said, "Even with the same diagnosis, the progression of dilated cardiomyopathy varies greatly from patient to patient," and added, "This study provides the clinical evidence needed to early evaluate high-risk groups for heart transplantation and arrhythmia based on genetic information and establish follow-up and treatment strategies for each patient."

The results of this study were published in the international academic journal 'The Journal of Heart and Lung Transplantation'.