Review Question - QID 100632

This young patient is exhibiting signs and symptoms of right heart failure in the setting of a longstanding cardiac murmur. This combination raises immediate concern for Eisenmenger syndrome, a feared sequela of congenital heart disease comprised of the triad of a right-to-left intracardiac shunt, cyanosis, and pulmonary arterial disease. A bubble study, in which agitated saline injected intravenously appears in the left atrium during echocardiography, is commonly used to diagnose a right-to-left shunt.

Eisenmenger syndrome typically develops as a result of failure to diagnose and treat a left-to-right intracardiac shunt during childhood. Congenital cardiac conditions that can lead to Eisenmenger include ventricular septal defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA). When left untreated, the increased pulmonary blood flow (due to the left-to-right shunt) can lead to pulmonary vascular disease and pulmonary arterial hypertension (PAH). As PAH progresses, pressures in the right heart increase, leading to reversal of the shunt so that net blood flow is right-to-left. In addition to the development of cyanosis and heart failure, this occurrence can be accompanied by disappearance of the longstanding left-to-right shunt murmur.

Illustration A shows a patient with nail clubbing. Video V shows an echocardiogram with a positive bubble study due the presence of a large ASD.

Incorrect Answer:
Answer 1: End stage aortic stenosis may cause heart failure and sudden syncope, but would generally be associated with the presence of a systolic murmur in an older patient. It is not associated with a positive bubble study.
Answer 2: Mitral insufficiency would be expected to present with a systolic murmur, and is not associated with a positive bubble study.
Answer 4: Ventricular aneurysm is most commonly seen as a complication following acute myocardial infarction. It may result in heart failure due to decreased cardiac output, but would not associate with a positive bubble study.
Answer 5: Dynamic left ventricular outflow tract obstruction is consistent with hypertrophic cardiomyopathy. This condition is not typically associated with a positive bubble study.