Eisenmenger Syndrome

Eisenmenger syndrome (ES) refers to the combination of a type of high blood pressure that affects the blood vessels of the lungs and heart (pulmonary hypertension), and abnormal blood flow through the heart. ES most often occurs in people who are born with a heart defect (congenital heart defect) that does not get repaired in childhood. The most common type of heart defect associated with Eisenmenger syndrome is a ‘hole in the heart’ or ventricular septal defect, but other types of heart defects can lead to Eisenmenger syndrome. The symptoms include blueish skin color (cyanosis), rounded fingers and toes (clubbing), and shortness of breath. The symptoms of ES typically get worse over time.

Eisenmenger syndrome is not inherited in families. It is diagnosed based on the symptoms in a person with a heart defect that has not been repaired. Treatment for this syndrome includes medications for pulmonary hypertension and avoiding high-risk situations, such as pregnancy and high-altitudes.  A heart-lung transplant is a treatment option for those who have severe ES.