arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that primarily affects the right ventricle, where normal myocardial tissue is progressively replaced by fibro‐fatty tissue. This structural change disrupts the heart's electrical system, leading to ventricular arrhythmias and an increased risk of sudden cardiac events. Variants in the JUP gene have been associated with this condition, although detailed inheritance patterns have not been established. ARVC is relatively common among rare cardiac disorders, affecting approximately 1 to 5 in 10,000 people.

Patients with ARVC may experience symptoms related to abnormal heart rhythms, such as palpitations, dizziness, or episodes of fainting. In some cases, the condition may first be identified after a serious cardiac event or sudden cardiac arrest. Over time, individuals might notice increased fatigue or exercise intolerance as the heart’s function becomes progressively compromised. Not all individuals experience every symptom, and severity varies considerably.

ARVC has been linked to changes in the JUP gene, which plays a critical role in maintaining the structural integrity of heart muscle cells. Disruption of this gene can lead to the fibro‐fatty replacement in the right ventricular myocardium that characterizes the disease. Since specific inheritance patterns are not yet well established, families are encouraged to consider genetic counseling to better understand potential risks and implications for family members.

Currently, management of ARVC focuses on supportive care and symptom management rather than on treatments specifically approved for the condition. Therapeutic strategies may include lifestyle modifications, medications to control arrhythmias, and regular monitoring by a team of cardiac specialists. In light of the absence of FDA-approved treatments, patients are advised to work closely with their healthcare providers to tailor a treatment plan that best addresses their individual needs, including considerations for genetic counseling.

The course of ARVC varies widely among affected individuals, with some experiencing stable long-term management and others facing serious cardiac events. With current standards of care and ongoing advancements in cardiac treatment, many individuals enjoy a good quality of life despite the risks. Outcomes described in medical literature continue to evolve as standards of care improve, and it is important to remember that severity and symptoms vary widely between individuals. Families are encouraged to seek guidance from cardiac specialists and genetic counselors to better understand management options and potential long-term outcomes.

Arrhythmogenic right ventricular cardiomyopathy is an active area of research, with numerous ongoing clinical trials exploring new approaches to treatment. Individuals interested in learning more about these trials can search ClinicalTrials.gov or speak with their healthcare team regarding trial eligibility.