arrhythmogenic right ventricular dysplasia 10

Arrhythmogenic right ventricular dysplasia 10 is a cardiac condition that primarily affects the right ventricle, leading to disturbances in the heart's rhythm. It is caused by a mutation in the DSG2 gene, a gene important for cell adhesion in heart muscle cells. The condition is inherited in an autosomal dominant manner, meaning a mutation in just one copy of the gene can contribute to disease risk. Prevalence data is not well established, and the clinical presentation as well as the severity of symptoms can vary considerably among affected individuals.

Clinically, affected individuals most experience ventricular arrhythmia, which is a consistent finding. Other features reported in subsets of individuals include the presence of epsilon waves, a prolonged PR interval, premature ventricular contractions, and episodes of ventricular tachycardia. Symptoms such as palpitations and chest pain have also been observed, and in some cases, sudden cardiac death, complete right bundle branch block, as well as increased levels of cardiac biomarkers are noted. Not all individuals experience every feature, and severity varies widely between cases.

The condition is linked to mutations in the DSG2 gene, which codes for a protein that plays a key role in cell adhesion within heart muscle tissue. Disruption of this protein can weaken the structural integrity of the heart, contributing to electrical instability and arrhythmic events. Being inherited in an autosomal dominant pattern, an individual with the pathogenic variant has a 50% chance of passing it on to each child, although the severity of the condition can differ markedly between family members. This variability means that not every person with the DSG2 mutation will experience the same degree of symptoms.

Currently, management focuses on supportive care and symptom relief, with treatment tailored to the individual based on the severity and nature of their cardiac symptoms. Since there are no specific foundational therapies or approved treatments available for this condition, care typically involves a multidisciplinary team approach that may include regular cardiac monitoring and lifestyle adjustments to reduce the risk of arrhythmic events. Patients are encouraged to discuss treatment options with their healthcare team to ensure that management strategies are appropriate for their situation, and genetic counseling is recommended for affected families.

Outcomes for arrhythmogenic right ventricular dysplasia 10 vary widely between individuals, with the severity of symptoms and progression differing from case to case. With current standards of care, many individuals manage their symptoms effectively, and improvements in cardiac care have contributed to more favorable outcomes over time. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to seek guidance from genetic counselors and cardiology specialists to better understand the implications for long-term management.