Uhl’s Anomaly is a very rare heart condition that affects the right ventricle. The heart has four ventricles or spaces in it, and the right ventricle is the lower compartment on the right side of the heart. This disease causes the muscular tissue of the heart, called the myocardium, to be very thin and almost missing. This thinned myocardium causes the heart to beat irregularly, which often leads to congestive heart failure. Congestive heart failure means that the heart cannot pump blood as efficiently throughout the body, and can cause symptoms such as dizziness, shortness of breath, swelling, or feeling very tired. This condition occurs across all ages, and men are affected twice as much as women.
The cause of this condition is likely the underdevelopment of the cells that make up the myocardium or problems with the regulated process of cell death in the right ventricle. It is believed that the condition is sometimes passed on through genetics, either an autosomal dominant or recessive manner, but most cases are sporadic. Sporadic means that the condition just occurs through random chance, but may be due to exposure to toxic substances.
Uhl’s Anomaly is diagnosed through echocardiograms, which is a type of ultrasound that allows doctors to look at the heart, and other medical scans. Treatment depends on the severity of the disorder, but usually includes standard medications. Some of the more severe cases may involve heart surgery or transplants to get a new heart. If you or a family member has been diagnosed with Uhl’s Anomaly, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Jan 28, 2018