Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.

OBJECTIVES: The objective of the study was to test the efficacy, safety and tolerability of triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia (FRDA) patients in a clinical pilot study. PATIENTS AND METHODS: Patients included in this study were 10 males and three females, 14-61 years of age (average 30.2 ± 12.1), diagnosed with FRDA with normal ventricular function. Patients were treated with triple therapy with deferiprone at 5-25 mg/kg/day, idebenone at 10-20 mg/kg/day and riboflavin at 10-15 mg/kg/day for 15-45 months. The efficacy of this triple therapy was assessed by change from baseline on the scale for the assessment and rating of ataxia (SARA) and by the change from baseline in echocardiogram parameters. RESULTS: Four patients discontinued due to adverse events (AEs) related with deferiprone. The annual worsening rate (AWR) was estimated in this series as 0.96 (CI 95%: 0.462-1.608) SARA score, whereas AWR for our FRDA cohort was estimated as 2.05 ± 1.23 SARA score. LVMI only decreased by 6.5 g/m(2) (6.2%) at the end of the first year of therapy. LVEF remained stable, except in case of three patients. CONCLUSION: Our results seem to indicate some uncertain benefit on the neurological and heart functions of this triple therapy in FRDA.

[Demonstration of accelerated growth of heart sarcoma using imaging techniques]. / Demostración del crecimiento acelerado de un sarcoma cardíaco mediante técnicas de imagen.

We report the case of a patient presenting a sarcoma of interatrial septum with an accelerated growth and a fulminate clinical course documented by non-invasive image diagnostic techniques, habitual in the cardiologic practice. The natural history of some cardiac malignant tumours, as aggressive as in this case, explains the diagnostic delay, the difficulty to establish a curative treatment such as surgery and/or chemotherapy/radiotherapy and the awful short-term prognosis.

[Congenital dysplasia of tricuspid valve (Ebstein like) in a 73-year-old male with severe tricuspid insufficiency]. / Displasia congénita de la válvula tricúspide (Ebstein like) en un varón de 73 años con insuficiencia tricuspídea severa.

Multiple congenital abnormalities in the structure of the tricuspid valve have been described and, the majority of cases could be considered as variations of Ebstein's anomaly. The onset of the symptoms and the diagnosis depend on the severity of the valve dysfunction and the right ventricular function and size. The age at diagnosis ranges from birth to adulthood, but a delayed diagnosis is rare when tricuspid regurgitation is severe. We cite as an example the case of a 73 year-old male classified as class I of the NYHA up to 5 months before, since then he developed progressive ascitis and edema on his legs. The physical examination suggested severe tricuspid regurgitation. We performed a transtoracic and transesophageal ecocardiogram that showed severe dysplasia in the tricuspid leaflets, severe regurgitation because of lack of adequate joining, dilatation of right chambers and right ventricular systolic dysfunction.