title: Cardiomyopathy and pericardial effusion in a 7 year-old boy with beta-thalassaemia major, severe primary hypothyroidism and hypoparathyroidism due to iron overload.
abstract: The primary cause of cardiac dysfunction in thalassemia is believed to be myocardial iron overload. Besides iron, other factors may play a role in the impairment of myocardial contractility, including prolonged heart tissue hypoxia, pericardial involvement, arrhythmias, endocrine complications and vitamin D deficiency. We present the case of a 7 year-old boy with ?-thalassaemia major and cardiac dysfunction, pericardial effusion and associated endocrinopathies. His serum thyrotropin (TSH) level was increased, and total and free thyroxine (FT4) were low. In addition, biochemical results and serum PTH level were compatible with a diagnosis of hypoparathyroidism. Other laboratory findings were not consistent with rheumatic heart disease, viral myocarditis or autoimmune disease. The child was treated with digoxin, diuretics, oral calcium, vitamin D, L-thyroxine (25 microg daily, which was later gradually increased) and subcutaneous iron chelation therapy (45 mg/kg, six days/week). The patient was discharged from our Unit after 7 days and within 3 months he had appreciable myocardial improvement and disappearance of the pericardial effusion.
authors.affiliation: Department of Reproduction, Paediatric and Thalassaemia Unit, St. Anna Hospital, Ferrara, Italy. vdesanctis@libero.it
authors.forename: Vincenzo
authors.initials: V
authors.lastname: De Sanctis
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Govoni
authors.forename: Monica
authors.initials: M
authors.lastname: Sprocati
authors.forename: Maria
authors.initials: M
authors.lastname: Marsella
authors.forename: Elena
authors.initials: E
authors.lastname: Conti