arrhythmogenic right ventricular dysplasia 11

Arrhythmogenic right ventricular dysplasia 11 is a genetic heart condition that affects the structure and electrical function of the right ventricle. It is caused by mutations in the DSC2 gene and can be inherited in an autosomal recessive or dominant manner. The condition may become noticeable during adolescence or early adulthood, although the specific age of onset varies. The severity and specific features can vary considerably from person to person. Because precise prevalence estimates are not available, our understanding of its frequency is based mainly on clinical observations.

Patients with this condition may experience palpitations and syncope, with these symptoms reported in about 30% to 79% of cases. In some individuals, sudden cardiac death is a serious concern, and others may notice occasional episodes of dyspnea. It is important to recognize that not all individuals experience all features, and severity and specific symptoms can vary considerably from one person to another.

Arrhythmogenic right ventricular dysplasia 11 is caused by mutations in the DSC2 gene, which plays a role in cell adhesion within the heart muscle. The condition has been reported with both autosomal dominant and autosomal recessive inheritance patterns, meaning it can be passed down in different ways within families. Not all individuals who carry a pathogenic DSC2 change will develop symptoms (reduced penetrance), and even among affected family members, the severity of the condition may vary (variable expressivity). Genetic counseling is recommended for families to better understand recurrence risks and implications for family planning.

Currently, management of arrhythmogenic right ventricular dysplasia 11 focuses on supportive care and symptom management. While there are no FDA-approved treatments specifically linked to this condition, treatment plans are individualized and typically involve a multidisciplinary team to address cardiac rhythm abnormalities and other complications. Patients are encouraged to discuss treatment options with their healthcare team, and genetic counseling is recommended to help families understand their situation and explore management strategies.

The clinical course of arrhythmogenic right ventricular dysplasia 11 is highly variable, with outcomes depending on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals manage their symptoms into adulthood, although some may experience serious cardiac events. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and specialists experienced in managing inherited cardiac conditions to guide ongoing care and monitor for potential complications.