Tun Win Naing, MD
Critical Care Fellow
Mount Sinai Hospital
Woodside, NY
Disclosure information not submitted.
Maria Ronquillo, BS, MD
Assistant Professor of Critical Care Medicine
Mount Sinai Hospital, United States
Disclosure information not submitted.
Tai Yin Hsieh, MD
Internal Medicine Resident
Wyckoff Heights Medical Center, United States
Disclosure information not submitted.
Thomas Seagraves, MD
Critical Care Medicine Fellow
Mount Sinai Hospital, United States
Disclosure information not submitted.
Umesh Gidwani, MD, MS
Associate Professor of Cardiology
Mount Sinai Hospital, United States
Disclosure information not submitted.
John Oropello, MD, FCCM
Professor of Surgery and Medicine, Institute of Critical Care Medicine
Icahn School of Medicine at Mount Sinai, United States
Disclosure information not submitted.
Title: Iron Overload Cardiomyopathy: A progressive silent disease leading to end-stage heart failure
Introduction: Iron Overload Cardiomyopathy (IOC) symptoms are varied from asymptomatic to severely overloaded left ventricular diastolic dysfunction secondary to restrictive pathophysiology to a dilated cardiomyopathy with irreversible systolic dysfunction. We describe rapidly progressive irreversible heart failure with IOC.
Description: A 33-year-old female with 14 year transfusion-dependent anemia diagnosed as Diamond-Blackfan-Anemia, later negative genetic testing with transferrin saturation 62% and serum ferritin >33000 ng/ml on chelation therapy (Deferasirox and Deferoxamine), presented with shortness of breath, orthopnea and leg edema. Cardiac MRI (CMRI) 3 months ago: severe myocardial iron deposition T2: 6ms with liver iron concentration 12.7 mg/g dry tissue; low normal EF of 50%. On home Lisinopril and Carvedilol, she was admitted to the cardiac intensive care unit for acute decompensated heart failure with congestion. New severely reduced biventricular function TTE-EF: 21%, normal coronary angiogram, right heart catherization: low cardiac output, elevated cardiac filling pressures. Treated with dobutamine and diuresis. Liver and myocardial biopsy: extensive iron deposition, no inflammatory cell infiltrates or granulomas. Repeat CMRI: persistent severe iron overload T2: 9ms. Advanced heart failure, hematology and liver medicine recommended continued chelation therapy and consideration for heart and liver transplantation once iron levels are improved. On day 4, course complicated by sustained ventricular tachycardia refractory to adenosine and amiodarone requiring cardioversion. The patient rapidly deteriorated with PEA arrest, ROSC in 5 minutes. She later developed refractory cardiogenic shock with multi-organ failure. She was made DNR by family members and expired the next day.
Discussion: IOC can rapidly progress to end stage heart failure from repetitive blood transfusions. Early diagnosis and treatment are important in improving life expectancy. More data are needed to determine if heart transplantation actually improves the clinical outcome.
1. Iron Overload Cardiomyopathy: Better Understanding of an Increasing Disorder. Journal of the American College of Cardiology. 2010 Sept;56(13):1001-1012.
2. Iron Overload Cardiomyopathy: from diagnosis to management. Current Opinion.2018;33(3):334-340.