arrhythmogenic right ventricular dysplasia 5

Arrhythmogenic right ventricular dysplasia 5 is a cardiac condition characterized by structural abnormalities of the right ventricle and is caused by pathogenic variants in the TMEM43 gene. This form of arrhythmogenic right ventricular cardiomyopathy affects the heart muscle, potentially leading to rhythm disturbances and other cardiac complications. The condition follows an autosomal dominant inheritance pattern, meaning that a single altered copy of the TMEM43 gene may increase the risk of developing these changes. Although precise prevalence estimates are not available, the presentation and severity of symptoms can vary widely among affected individuals.

The clinical presentation of arrhythmogenic right ventricular dysplasia 5 varies considerably between individuals. Some affected individuals may experience cardiac arrhythmias or other heart-related symptoms, while others may have a milder or less noticeable presentation. Not all individuals experience all features, and the severity of symptoms can differ greatly. Over time, symptoms may evolve, making regular monitoring important to detect any changes in cardiac function.

This condition is caused by pathogenic variants in the TMEM43 gene, which is important for normal cardiac muscle function. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the variant to each child. , having a variant in TMEM43 does not necessarily mean that symptoms will develop, as there is variable expressivity and incomplete penetrance. Families are encouraged to pursue genetic counseling to better understand the implications of this genetic finding for themselves and their relatives.

Currently, management of arrhythmogenic right ventricular dysplasia 5 focuses on supportive care and symptom management, as no treatments are specifically approved for this condition. A multidisciplinary team approach is key, with careful cardiac monitoring and interventions aimed at managing arrhythmias and other complications as they arise. Patients are encouraged to work closely with their healthcare team to tailor treatment plans to their individual needs, and genetic counseling is recommended to provide additional support and guidance.

The outlook for individuals with arrhythmogenic right ventricular dysplasia 5 is variable, and outcomes depend on factors such as the severity of cardiac involvement and access to specialized care. With current standards of care, many affected individuals are able to manage their symptoms into adulthood even though the condition may progress, stabilize, or follow a variable course over time. Outcomes described in medical literature continue to evolve as standards of care improve, making ongoing cardiology follow-up essential. Families are advised to connect with specialized cardiac care centers and genetic counselors for personalized care and support.