Resident Physician OHSU- Hillsboro Medical Center hillsboro, Oregon, United States
Disclosure(s):
Ayesha S. Ghoto, MBBCh: No financial relationships to disclose
Background: A 28 year old female with a history of hypogonadotropic hypogonadism presented to the emergency department after an out of hospital cardiac arrest due to ventricular tachycardia.
Methods: Return of spontaneous circulation was achieved by emergency medical services in the field with synchronized defibrillation after bystander cardiopulmonary resuscitation. Emergency bedside transthoracic echocardiogram showed severe biventricular systolic dysfunction and dilation, with severe tricuspid regurgitation and a large left ventricular apical thrombus. Additionally, the patient was noted to have complete heart block requiring atropine administration, followed by placement of a temporary transvenous pacing wire. She was admitted to the cardiac ICU for management of cardiogenic shock (CS) and post-cardiac arrest care. Subsequent left heart catheterization showed normal coronary arteries, effectively excluding ischemic cardiomyopathy Hemodynamic support was initiated with inotropic therapy, including dobutamine and epinephrine infusions, in addition to intravenous diuresis with furosemide. Mechanical circulatory support was considered, however ultimately not required due to interval improvement in hemodynamics. Given the patient’s young age, severe nonischemic cardiomyopathy, and conduction abnormalities, further evaluation for infiltrative and metabolic etiologies was pursued. Endomyocardial biopsy revealed marked iron deposition within cardiomyocytes. Subsequent genetic testing confirmed a diagnosis of juvenile hemochromatosis (JH). The patient was initiated on iron chelating therapy with deferoxamine and deferiprone, and demonstrated biochemical response with a decrease in serum ferritin.
Outcome: JH is a rare, severe autosomal recessive disorder of iron metabolism, classified as type II hemochromatosis resulting from mutations in the HJV or HAMP genes. These mutations lead to profoundly reduced hepcidin activity and uncontrolled intestinal iron absorption, causing early iron deposition. Clinical manifestations include cardiomyopathy, endocrine dysfunction such as diabetes mellitus, and hypogonadotropic hypogonadism. Unlike HFR-related hemochromatosis, juvenile hemochromatosis affects both males and females at a significantly younger age and is associated with a more aggressive clinical course. Patients often present cardiac manifestations prior to another organ dysfunction. These manifestations include dilated cardiomyopathy and high-grade conduction block.
Our patient was discharged with iron chelation and home dobutamine inotropy, with a plan for serial echocardiography to assess myocardial recovery. Six months after discharge, she was still inotrope-dependent, and she subsequently underwent successful transplantation.
Conclusion: Our case brings attention to a rare cause of CS in young patients. While she did not demonstrate cardiac recovery from chelation, reports of this disorder indicate the potential for myocardial recovery with establishing an early diagnosis, highlighting the importance of a workup for patients with HF of unknown etiology.
