A case of mitochondrial disease with severe left ventricular hypertrophy

J Med Ultrason (2001). 2011 Jul;38(3):157-9. doi: 10.1007/s10396-011-0306-y. Epub 2011 May 15.

Abstract

A 35-year-old woman was admitted for progressive dyspnea with lower limb edema. Transthoracic echocardiography showed severe left ventricular hypertrophy (LVH) and heart failure with preserved ejection fraction (HFPEF). Electron microscopy of an endomyocardial biopsy sample revealed a high density of mitochondria of abnormal size and shape. We report a case of mitochondrial disease with severe LVH and HFPEF.

Keywords: Heart failure with preserved ejection fraction; Left ventricular hypertrophy; Mitochondrial disease; Serum lactate.