Young adult with Friedreich ataxia

Milano EG, Harries IB, Bucciarelli-Ducci C, Heart Published Online First: 15 January 2019. doi: 10.1136/heartjnl-2018-314387

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 1.5 T scanner.

 Young adult with Friedreich ataxia