arrhythmogenic right ventricular dysplasia 8

Arrhythmogenic right ventricular dysplasia 8 (ARVC8) is a hereditary heart condition in which the muscle of the right ventricle is gradually replaced by scar and fatty tissue, creating an unstable electrical environment. The underlying cause is a change (variant) in the DSP gene that encodes desmoplakin, a protein important for strong connections between heart muscle cells. Although cases have been reported worldwide, precise prevalence figures have not been established. Symptoms often emerge in adolescence or early adulthood, but age of onset and severity vary widely among affected individuals.

The hallmark of ARVC8 is right ventricular cardiomyopathy, meaning the right side of the heart becomes stretched and weakened. This structural change sets the stage for electrical instability. Early clues can include palpitations or a fluttering sensation in the chest caused by premature ventricular contractions that occur in many but not all individuals. As the condition progresses, some people experience episodes of ventricular tachycardia or ventricular fibrillation, which are fast, life-threatening heart rhythms that can lead to fainting or, in rare cases, sudden cardiac death. Congestive heart failure may develop when the heart can no longer pump effectively. Not all individuals experience every feature, and severity varies considerably from person to person.

ARVC8 results from pathogenic variants in the DSP gene. Desmoplakin, the protein produced by this gene, acts like molecular glue that helps heart muscle cells stay connected during every heartbeat. When desmoplakin is abnormal, cell–to-cell junctions weaken, leading to the scarring and fat replacement that disrupt normal electrical signaling. The condition is inherited in an autosomal dominant pattern, meaning one altered copy of the gene is enough to increase the risk of disease. Each child of an affected individual has a 50 percent chance of inheriting the variant and should be offered genetic counseling and, when appropriate, testing. Even within the same family, the type and severity of symptoms can differ markedly (variable expressivity).

Currently, management focuses on reducing the risk of dangerous heart rhythms, preserving heart function, and addressing symptoms. Lifestyle guidance, medications to control arrhythmias, and standard heart failure therapies are tailored to each individual by a cardiologist. Some people benefit from an implantable cardioverter-defibrillator, a device that can detect and correct life-threatening rhythms. Long-term care is best provided by a multidisciplinary team that may include electrophysiologists, heart-failure specialists, and genetic counselors. Regular cardiac monitoring is an essential part of ongoing surveillance, helping to detect emerging complications before they become serious. Because no treatments are specifically approved for ARVC8 at this time, patients should work closely with their healthcare team to determine the most appropriate strategies for their situation.

Outcomes for individuals with ARVC8 depend on how early the condition is recognized, the severity of electrical instability, and access to specialized care. Some people remain stable for many years with few symptoms, while others experience recurrent arrhythmias or progressive heart failure that require more intensive management. Access to modern cardiac monitoring, implantable devices, and expert care has improved survival and quality of life for many affected individuals. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with cardiologists experienced in inherited arrhythmia syndromes and to seek genetic counseling for guidance on screening relatives and family planning.