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Young adult with Friedreich ataxia
  1. Elena Giulia Milano1,2,
  2. Iwan B Harries1,
  3. Chiara Bucciarelli-Ducci1
  1. 1 CMR Unit, Bristol Heart Institute, University of Bristol and University Hospitals Bristol NHS Foundation Trust, Bristol, UK
  2. 2 Department of Medicine, University of Verona, Verona, Italy
  1. Correspondence to Dr Chiara Bucciarelli-Ducci, CMR–Unit Bristol Heart Institute, University of Bristol and University of Hospitals Bristol NHS Foundation Trust, Bristol BS28HW, UK; c.bucciarelli-ducci{at}bristol.ac.uk

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Clinical introduction

A young adult with Friedreich ataxia complaining of exertional breathlessness underwent a cardiological evaluation. On physical examination, high blood pressure and a loud systolic murmur were noted. ECG showed sinus rhythm with voltage criteria for left ventricular hypertrophy (LVH) and T-wave changes in the inferolateral leads. Transthoracic echocardiography showed biventricular hypertrophy (maximum wall thickness of the interventricular septum 26 mm and 16 mm of the posterior wall), preserved systolic function, mild left ventricular intracavity gradient and an unremarkable mitral and aortic valve. A cardiovascular magnetic resonance (CMR) was requested for further assessment. CMR protocol, performed using a …

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