Gene Therapy Shows Promise for Lethal Inherited Heart Disease ARVC5

Scientists at the National Center for Cardiovascular Research (CNIC) have developed a gene therapy that could revolutionize the treatment of arrhythmogenic cardiomyopathy type 5 (ARVC5), a lethal inherited heart disease. This rare genetic condition primarily affects young men and can cause severe arrhythmias that may lead to sudden death. Current treatments only alleviate symptoms. The new therapy introduces a healthy copy of the TMEM43 gene, which causes the disease when mutated, directly into heart cells. Tests on mice showed that a single dose improved heart contraction, reduced tissue damage, and extended the lives of the affected animals. The disease is particularly aggressive in young men, reducing their life expectancy to below 42 years. Researchers used adeno-associated viral vectors (AAV) to deliver the corrected gene to the heart cells. This technology has been used in other genetic diseases. Scientists believe this technique could also be applied to other inherited heart diseases without effective treatments. The research is a result of over 10 years of collaboration between CNIC researchers and doctors at Hospital Puerta de Hierro de Majadahonda, where the first ARVC5 cases in Spain were identified. According to Dr. Enrique Lara-Pezzi, treatments for heart failure associated with hereditary cardiomyopathies are often ineffective, and the new strategy has potential application in the treatment of other diseases of this type. AAV gene therapy has enormous potential to offer specific solutions and cures not only for ARVC5, but also for other inherited cardiac disorders.