Lucina: Lucina

Arch Dis Child 2010;95:316 doi:10.1136/adc.2009.187534 
 

...conditions (autosomal recessive cerebellar ataxias) that includes Friedreich's ataxia. The onset is usually in adolescence and the clinical...difficult) should be restricted to patients with ataxia, but not Friedreich's ataxia or ataxia- telangiectasia, and with a serum AFP concentration...

Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment

Cardiovascular Ultrasound 2010, 8:7doi:10.1186/1476-7120-8-7
 OPEN ACCESS

Maria-Angela Losi , Stefano Nistri , Maurizio Galderisi , Sandro Betocchi , Franco Cecchi , Iacopo Olivotto , Eustachio Agricola , Piercarlo Ballo , Simona Buralli , Antonello D'Andrea , Arcangelo D'Errico , Donato Mele , Susanna Sciomer , Sergio Mondillo  and Working Group of Echocardiography of the Italian Society of Cardiology

Abstract (provisional)

Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiomyopathy. The identification of patients with HCM is sometimes still a challenge. Moreover, the pathophysiology of HCM is complex because of left ventricular hyper-contractile state, diastolic dysfunction, ischemia and obstruction which often are coexistent in the same patient. In this review, we discuss the current and emerging echocardiographic methodology that can help physicians in the correct diagnostic and pathophysiological assessment of patients with HCM.

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