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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>ARVC can result from mutations in at least 13 genes. Many of these genes are known as desmosomal genes because they provide instructions for making components of cell structures called desmosomes. Desmosomes attach heart muscle cells to one another, providing strength to the myocardium and playing a role in signaling between neighboring cells.</p><p>Mutations in desmosomal genes impair the function of desmosomes. Without normal desmosomes, cells of the myocardium detach from one another and die, particularly when the heart muscle is placed under stress (such as during vigorous exercise). These changes primarily affect the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. The damaged myocardium is gradually replaced by fat and scar tissue. As this abnormal tissue builds up, the walls of the right ventricle become stretched out, preventing the heart from pumping blood effectively. These changes also disrupt the electrical signals that control the heartbeat, which can lead to arrhythmia.</p><p>Less commonly, mutations in non-desmosomal genes can cause ARVC. These genes have a variety of functions, including cell signaling, providing structure and stability to heart muscle cells, and helping to maintain a normal heart rhythm. Researchers are working to determine how mutations in non-desmosomal genes can lead to ARVC.</p><p>Gene mutations have been found in about 60 percent of people with ARVC. Mutations in a desmosomal gene called PKP2 appear to be most common. In people without an identified mutation, the cause of the disorder is unknown. Researchers are looking for additional genetic factors that play a role in causing ARVC.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Arrhythmogenic right ventricular cardiomyopathy?"},{"bodyHtml":"<p>ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"arrhythmogenic-right-ventricular-cardiomyopathy","sourceDocuments":[{"name":"Arrhythmogenic right ventricular cardiomyopathy","reviewed":"2010-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:30.150106+00:00","label":"Causes","pageSha256":"c3ef47d714545d81a24fe7983f3ec3e3306fb6871c7988035c29d2c98f64f325","sourceUrl":"https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Arrhythmogenic right ventricular cardiomyopathy"},"schemaVersion":1}