Misses Opportunity: TOF Diagnoses in 4th Decade of Life

A 40 year old woman with a history of HIV, congestive heart failure secondary to an unknown congenital heart defect, and hypertension presented to our emergency department with worsening edema. On room air, oxygen saturation was 55 percent . On 5L of oxygen via nasal cannula, oxygen saturation was 88 percent . Physical examination was notable for central cyanosis, facial and lid edema, a II/VI holosystolic murmur across right chest radiating to entire right back hemithorax, decreased breath sounds at bases with pulmonary crackles, clubbing of fingers and edema of bilateral lower extremities. The patient related lifelong knowledge of a congenital heart defect, but had not been seen by a cardiologist as an adult. She was asymptomatic, yet sedentary until one year ago when she had the first of multiple hospitalizations for acute decompensated heart failure. A chest x-ray showed massive cardiomegaly with right-sided calcified aortic arch and patchy bilateral infiltrates. Transthoracic echocardiogram revealed severe right ventricular hypertrophy, ventricular septal defect, overriding aorta, and ejection fraction of 50 percent , consistent with unrepaired ToF. We utilized multimodality imaging techniques including CT angiography and Cardiac MRI which further defined her cardiac anatomy. Findings were consistent with unrepaired ToF with pulmonary atresia. The pulmonary arteries arose directly from the aorta in a confluent fashion via a large patent ductus arteriosus, major aortopulmonary collateral artery. The arterialized pulmonary arteries were aneurysmal with dissection and mural thrombus formation.

This case illustrates how a patient with a rare presentation of unrepaired ToF with pulmonary atresia can go undiagnosed into adulthood. Early recognition utilizing a multimodality imaging approach can lead to proper diagnosing and hopeful surgical repair which can provide considerable improvement in functional status and long-term survival.