Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a rare genetic heart condition that primarily affects the right ventricle, the chamber responsible for pumping blood to the lungs. In individuals with ARVC, the heart muscle in the right ventricle is progressively replaced by fatty and fibrous tissue, which weakens the heart’s ability to pump effectively. This structural change can disrupt the heart’s electrical signals, leading to arrhythmias—abnormal heart rhythms that can cause palpitations, dizziness, fainting, and, in severe cases, sudden cardiac arrest, particularly in young adults and athletes.
ARVC is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to be at risk. Early detection and diagnosis of ARVC are crucial, as the condition can be managed with lifestyle modifications, medications, and sometimes implantable devices to control heart rhythm. Genetic testing plays a key role in diagnosing ARVC, allowing for targeted interventions and the identification of at-risk family members.
Genetic testing plays a critical role in diagnosing and managing Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). Since ARVC is primarily an inherited disorder, identifying the specific gene mutations that cause the condition helps clinicians confirm a diagnosis, even before significant symptoms appear. Early diagnosis is vital for effective management, as it allows for proactive treatment and lifestyle adjustments that can reduce the risk of dangerous arrhythmias and sudden cardiac arrest.
In addition to confirming the diagnosis, genetic testing enables personalized care. Patients with identified mutations can be closely monitored for changes in heart function, and treatments, such as medications, lifestyle recommendations (e.g., limiting intense physical activity), and possibly the use of implantable cardioverter-defibrillators (ICDs), can be tailored to their specific genetic profile. Furthermore, genetic testing can also help identify at-risk family members who may carry the same mutations, allowing for early intervention and preventive measures, even if they are asymptomatic. This targeted approach helps improve long-term outcomes and reduces the risk of life-threatening complications.
What is the Program?
Sponsored by Tenaya Therapeutics, this program offers genetic testing and counseling at no cost for adults 18-65 years of age, with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) who have a functional implantable cardioverter-defibrillator (ICD) and remain symptomatic despite current therapies. The program analyzes a panel of 17 genes known to be associated with ARVC, to evaluate for an underlying genetic cause of disease. Up to 50-60% of all ARVC cases are due to variants in genes that encode desmosomal proteins that support mechanical and electrical functions of the heart. In particular, variants in the PKP2 gene are reported to account for the majority of genetic causes of ARVC. This program is available within the United States and the test must be ordered by a qualified healthcare provider.
Collect a specimen in the collection tube. For information about ordering specimen kits, see Specimen Collection and Shipping section
Tenaya Therapeutics is a clinical-stage biotechnology company committed to a bold mission: to discover, develop and deliver potentially curative therapies that address the underlying drivers of heart disease. Leveraging its integrated and interrelated Gene Therapy, Cellular Regeneration and Precision Medicine platforms and proprietary core capabilities, the company is advancing a pipeline of novel therapies with diverse treatment modalities for rare genetic cardiovascular disorders and more prevalent heart conditions. Tenaya’s most advanced candidates include TN-201, a gene therapy for MYBPC3-associated hypertrophic cardiomyopathy (HCM), TN-401, a gene therapy for PKP2-associated arrhythmogenic right ventricular cardiomyopathy (ARVC), and TN-301, a small molecule HDAC6 inhibitor being initially developed for heart failure with preserved ejection fraction (HFpEF). Tenaya also has multiple early-stage programs progressing through preclinical development. For more information, visit www.tenayatherapeutics.com.
