Quick Fire Cases
Madhusudan Ganigara, MD
Assistant Professor of Pediatrics
The University of Chicago
Madhusudan Ganigara, MD
Assistant Professor of Pediatrics
The University of Chicago
Miriam Blumenthal, MD
Resident in Pediatrics
The University of Chicago
Narutoshi Hibino, MD
Professor of Surgery
The University of Chicago
Stephen Pophal, MD
Associate Professor of Pediatrics
The University of Chicago
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder characterized by thrombosis, hemolytic anemia, and cytopenia. Thrombosis is the leading cause of mortality. Congenital heart disease needing surgery adds to the complexity of managing patients with PNH. An adolescent who presented with severe pancytopenia was diagnosed with new onset aplastic anemia and paroxysmal nocturnal hemoglobinuria. He required initial ICU admission and multiple blood product transfusions, and later treatment with Eculizumab. Screening echocardiogram revealed unexplained right heart dilatation.
Diagnostic Techniques and Their Most Important Findings:
Cardiac MRI was performed for further evaluation, and revealed a superior sinus venosus defect (SVD) with associated anomalous right upper pulmonary venous return. This complicated the management as the bone marrow transplantation required placement of a central venous catheter in superior vena cava. In the presence of a SVD a central venous catheter placed the patient at risk for paradoxical embolus into the systemic circulation. Following multidisciplinary discussion, he was planned for cardiac surgery prior to bone marrow transplantation.
Cardiopulmonary bypass and cardiac surgery was tolerated well. He was managed with steroids and bivalirudin in the postoperative period which was uneventful. After a 2-month period to allow for recovery and surgical repair site healing, a surgical central line was placed with the tip in the mid-SVC. Three months after cardiac surgery, the patient had a successful stem cell transplant and continues to recover at home.
Learning Points from this Case:
PNH is a life-threatening disease characterized by cytopenia and thrombosis. Stem cell transplant via dependable central venous access is to date the only cure. We present a case where careful multidisciplinary planning for superior sinus venosus defect repair in a patient with a new diagnosis of PNH was crucial for a successful outcome.
