Complex Case: Severe Form of Adult Congenital Heart Disease

The patient was a 19-year-old college student who had been diagnosed at birth with a severe form of congenital heart disease: tricuspid and pulmonary valve atresia with severe right ventricular hypoplasia.

She has been treated at NYU Langone since birth, starting with a standard series of palliative single-ventricle surgeries. She had a modified Blalock–Taussig shunt placed as a neonate and a lateral tunnel Fontan procedure at age three. She did well without symptoms for some time after the Fontan procedure, but as with all patients with a Fontan circulation, she was still at risk for a variety of functional problems, among them arrhythmia, exercise limitations, thromboembolic events, protein-losing enteropathy, and chronic venous insufficiency.

The patient had a stable circulation status until age 19, when she presented with chest pain and was diagnosed with a myocardial infarction (MI). Testing revealed evidence of an old scar consistent with a prior MI in the left anterior descending (LAD) coronary artery territory and an acute MI in the right coronary artery (RCA) territory. Catheterization demonstrated a thrombus in the RCA, which was treated successfully with angioplasty. The cause of the RCA thrombus and the acute MI was not clear. She was known to have a fistula — ​an abnormal connection from her LAD to the small right ventricle — ​and this was seen during the cardiac catheterization at the time of her MI, as well.

She recovered from the MI and the angioplasty and was started on warfarin and aspirin. Patients with a Fontan circulation are at risk for thromboembolic complications for a variety of reasons, but coronary thromboembolism and MI are highly unusual complications in such patients. This presented a dilemma for NYU Langone congenital experts because there were many possible causes of the complications and options for management, but no relevant data to guide them in creating a treatment plan for this specific situation. To discuss the possibilities of care and bring different perspectives to a challenging case, a clinical team was formed, with Doff B. McElhinney, MD, professor of pediatrics, medicine, and cardiothoracic surgery, and director of interventional cardiology for congenital and structural heart disease, working in close collaboration with her primary cardiologist, NYU Langone’s Adam H. Skolnick, MD, assistant professor of medicine, and other CVI cardiologists and cardiac surgeons.

The team decided to evaluate and attempt to treat other possible causes of the thromboembolism, which might include other types of right-to-left shunting that could occur in a Fontan circulation. For this reason, another cardiac catheterization was performed. The coronary artery fistula to the patient’s rudimentary right ventricle was one potential source of the thrombus, so the team considered whether the fistula should be closed with a catheterization procedure. However, closure of coronary fistulas can be complicated by a clot in the coronary artery or an MI in their own right, and it was not clear that closing the coronary artery fistula would result in any other benefit because the right ventricle was very small and did not result in a large shunt. Given these considerations, and after more focused angiography of the fistula and the right ventricle, the team decided that the fistula should not be occluded. During the same catheterization procedure, however, a complex leak in the patch used to create the Fontan pathway was discovered, which allowed right-to-left shunting of blood and the potential for thrombus. Dr. McElhinney successfully closed this leak with an occlusion device.

Since the procedure, the patient has continued treatment with anticlotting medications and routine evaluation for a young adult with a Fontan circulation. She has returned to college without limitations on her daily activity, enjoys stable functional status, and exercises regularly. She remains at risk for various complications related to her Fontan circulation and will require lifelong care, but she is well supported by the multidisciplinary, collaborative chronic and acute care that she receives at NYU Langone.