IJCS | Volume 31, Nº3, May/ June 2018

DOI: 10.5935/2359-4802.20170095 Introduction GCW, age 33, presents acute heart failure (HF), amenorrhea and darkening of the skin. Three months after this initial situation, the patient is referred to a large cardiology centre and is submitted to HF screening, and the suspicion of hemochromatosis is promptly raised. This disease affects the heart in only 15% of cases. It has been shown that early recognition and intervention may change the prognosis. This is a diagnosis that should be considered in all cases of HF screening since it is easy to diagnose and its treatment can drastically change the prognosis of the disease. Hereditary hemochromatosis (HH) is a genetic disease of iron metabolism characterized by increased intestinal absorption and progressive accumulation of it in different organs. 1 HH is the most common autosomal disease in Caucasians, particularly those with Nordic or Celtic ancestors, affecting one in each 220‑250 individuals. 2 According to the mutations found, HH can be classified as: Hemochromatosis associated with HFE (classical hemochromatosis) and hemochromatosis not associated with HFE: Hereditary hemochromatosis due to mutation at the receptor 2 of transferrin-TfR2, juvenile hemochromatosis (hemojuvelinmutation - HJV gene and hepcidin mutation - HAMP gene), ferroportin disease and African iron overload. The vast majority (80-85%) of HH cases that have northern European ancestors are associated with HFE, while 10-15% of HH cases are not associated with HFE. 3 Cardiac involvement, despite being a low-incidence complication (15%), is the main cause of morbidity and mortality, presenting 1-year survival after diagnosis without treatment. 4 It is a significant and potentially reversible cause of heart failure whichmainly involves diastolic dysfunction and increased susceptibility to arrhythmias and terminal HF, and has a varied spectrum of symptoms. It was demonstrated that early recognition and intervention can alter the course of the disease. Biochemical markers and tissue biopsy have traditionally been used to diagnose and guide the therapy. More recent diagnostic modalities, such as cardiac MRI, are noninvasive and can assess the quantitative loading of cardiac iron. Phlebotomy and chelating drugs are the main current treatments. Other treatments are being investigated. 5 Case report A 33-year-old Caucasian female worker from Alto Jequitiba, Minas Gerais, presented amenorrhea for 3 years and darkening of the skin for 1 year. Progressive dyspnea report for 3 months, associated with gastric fullness, ascites, lower limb edema, orthopnea and NYHA III functional class. Referred to the National Institute of Cardiology for follow-up and etiological investigation. At the examination she had grayish skin changes, she said she could see her skin more tanned in the last year, but she related it to the fact that she used to work under the sun. In addition to regular heart rhythm in 3 times with presence of 4th accessory sound and symmetrical lower limb edema. As an initial propaedeutic, the following exams were performed: Ferritin 6073 ng/ml (VR: 20-200 ng/ml), Serum iron 342 mcg/dL (VR: 60 A 180 mcg/dL), Transferrin Saturation 101% VR: 20 to 40%). 308 International Journal of Cardiovascular Sciences. 2018;31(3)308-311 CASE REPORT Mailing Address: Cassia Pereira Kessler Iglesias Rua Queiros Junior 201, apto 602 bl 02. Postal Code: 22775-170, Jacarepaguá, Rio de Janeiro, RJ – Brazil E-mail: cassiakessler@gmail.com Hemochromatosis: Reversible Cause of Heart Failure Cassia Pereira Kessler Iglesias, Paulo Vinicios Falcão Duarte, Jacqueline Sampaio dos Santos Miranda, Luana da Graça Machado, Caio Ribeiro Alves Andrade Instituto Nacional de Cardiologia, RJ – Brazil Manuscript received May 17, 2017; revised August 29, 2017; accepted September 22, 2017. Heart Failure; Hemochromatosis / genetics; Iron Metabolism Disorders; Phlebotomy; Indicators of Morbidity and Mortality. Keywords