[Mitochondrial disease and complete heart block. Kearns-Sayre syndrome. Description of a case]. / Malattie mitocondriali e blocco cardiaco completo. Sindrome di Kearns-Sayre. Descrizione di un caso.

Defects of the mitochondrial respiratory chain form a clinically and biochemically heterogeneous group of diseases. Mitochondrial diseases include myopathies and multisystem disorders that are defined either by biochemical abnormalities of the mitochondria or by the presence of "ragged red fibers" in muscle-biopsy specimens stained with modified Gomori's trichrome stain. Several syndromes have been identified. Typical Kearns-Sayre syndrome is a sporadic condition that is characterized by an onset before the age of 20, progressive external ophthalmoplegia, pigmentary retinopathy and cardiac disorders. Mitochondrial DNA deletions were found in patient with Kearns-Sayre syndrome. We report the case of a 33 year-old woman, with neuromuscular syndrome of the Kearns-Sayre type, insulin-sensitive diabetes and complete heart block, who was implanted a pacemaker.

[Primary malignant lymphoma of the heart. Description of a case and review of the literature]. / Linfoma maligno primitivo del cuore. Descrizione di un caso e revisione della letteratura.

Primary cardiac tumors are rare. Approximately 25% of primary cardiac tumors are malignant, with the majority of these being sarcomas. Primary lymphoma of the heart is a very rare malignancy, usually recognized at autopsy or fatal within a few weeks of diagnosis. we report the case of a patient with diffuse large uncleaved cell lymphoma of the heart who had dyspnea, distention of the neck veins, edema of the face and arms. The diagnosis in this patient was aided by 2D-echocardiography, CT scan of the chest and superior vena caval angiography. The diagnosis was confirmed at operation and by histological examination. Surgical procedures were only palliative and aimed at prolonging life. However, prognosis remained severe and unchanged.