Cardiomyopathy, Dilated, 3C
OMIM number: 301163
Comments closing date: 06/08/2026
Cardiomyopathy, Dilated, 3C is a rare inherited genetic disorder affecting the heart muscle. It is caused by pathogenic variants in the EMD gene (emerin) located on chromosome Xq28. The condition causes the heart chambers, particularly the left ventricle, to become enlarged and weakened, reducing the heart's ability to pump blood effectively. Affected individuals may develop symptoms including fatigue, breathlessness, exercise intolerance, palpitations, chest pain, fainting episodes and progressive heart failure. The condition is associated with a significantly increased risk of life-threatening cardiac arrhythmias, sudden cardiac death, and the need for heart transplantation. In severe cases, symptoms may develop during childhood or adolescence and can progress rapidly.
