Abstract
<title>Abstract</title> <p> <bold>Background</bold> Juvenile haemochromatosis (JH) is a rare autosomal recessive iron-overload disorder caused by mutations in the HJV or HAMP genes. Unlike classic HFE-related hereditary haemochromatosis, JH manifests before the age of 30 and is characterised by more severe multi-organ iron deposition, predominantly affecting the heart and endocrine glands. Cardiac involvement frequently presents as dilated or restrictive cardiomyopathy, and death from heart failure is the leading cause of mortality in untreated individuals. <bold>Case Presentation</bold> We report a 26-year-old Bangladeshi male, a saree maker from Sirajganj, who presented with a three-month history of progressive exertional dyspnoea (MRC grade 3), orthopnoea, and generalised oedema, together with a one-year history of diffuse cutaneous hyperpigmentation and a several-month history of erectile dysfunction. He was diagnosed with diabetes mellitus at age 20 and was receiving insulin. Family history revealed a deceased sibling who had suffered from an identical constellation of early-onset diabetes, progressive skin darkening, and premature death at age 22. Examination revealed raised jugular venous pressure, bradycardia (50 bpm) with an irregular rhythm, bilateral pleural effusion, hepatomegaly, and ascites. Investigations demonstrated markedly elevated serum ferritin (9,564 ng/mL), elevated transferrin saturation (77%), and iron of 403 mcg/dL. Hormonal profile confirmed hypogonadotropic hypogonadism. Electrocardiography showed progression from Mobitz type II 2:1 atrioventricular block to complete heart block. Echocardiography revealed concentric left ventricular hypertrophy, grade III diastolic dysfunction, and right ventricular systolic dysfunction. Genetic testing confirmed juvenile haemochromatosis. Despite initiation of chelation therapy with desferrioxamine and planning for permanent pacemaker implantation, the patient deteriorated acutely and died during his third admission. <bold>Conclusions</bold> This case highlights juvenile haemochromatosis as a life-threatening and under-recognised cause of cardiac failure with conduction disease in young adults. A high index of suspicion is essential when early-onset diabetes, hyperpigmentation, hypogonadism, and cardiomyopathy cluster in a young patient, particularly with a positive family history. Early genetic testing and prompt initiation of iron-depletion therapy are critical to prevent irreversible end-organ damage. </p>