Acute-Onset Iron Overload Cardiomyopathy in Diamond-Blackfan Anaemia: A Case Report of Rapid Ejection Fraction Decline

Diamond-Blackfan anaemia (DBA) is a rare inherited bone marrow failure syndrome causing pure red cell aplasia. Patients frequently require long-term red cell transfusions, predisposing them to iron overload. This case describes a patient with DBA with rapid ejection fraction decline secondary to acute-onset iron overload cardiomyopathy. A 28-year-old male patient with known transfusion-dependent DBA and established iron overload and on deferasirox, presented with a one-week history of orthopnoea, dyspnoea and peripheral oedema. Echocardiography demonstrated severe biventricular impairment with an ejection fraction of 15-25%. This represented a marked decline from an estimated ejection fraction of 45% two years prior. His course was then complicated by fast atrial fibrillation and severe refractory hypokalaemia, leading to escalation to the critical care unit. Cardiac MRI confirmed significant myocardial and hepatic iron loading. He was then managed with intravenous deferrioxamine, heart failure pharmacotherapy and rate control, with subsequent escalation of oral chelation. He was then discharged with combined cardiology and haematology follow-up. This case illustrates a severe complication of DBA: acute-onset iron overload cardiomyopathy causing rapid ejection fraction decline despite ongoing oral chelation. Markedly elevated ferritin, transferrin saturation and serum iron, alongside a normal CRP, supported a diagnosis of severe systemic iron overload. Management required a rapid switch from oral deferasirox to intravenous desferrioxamine. This case demonstrates that severe, acute iron overload cardiomyopathy can occur in patients with transfusion-dependent DBA despite ongoing chelation. It supports the value of further study of cardiac outcomes in this patient group.