title: Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.
abstract: BACKGROUND
  Mitochondrial myopathy comprises various clinical subforms of neuromuscular disorders that are characterised by impaired mitochondrial energy metabolism due to dysfunction of the mitochondrial respiratory chain. No comprehensive and targeted cardiovascular magnetic resonance (CMR) studies have been performed so far in patients with mitochondrial disorders. The present study aimed at characterising cardiac disease manifestations in patients with mitochondrial myopathy and elucidating the in vivo cardiac damage pattern of patients with different subforms of mitochondrial disease by CMR studies.
  
  
  RESULTS
  In a prospective study, 37 patients with mitochondrial myopathy underwent comprehensive neurological and cardiac evaluations including physical examination, resting ECG and CMR. The CMR studies comprised cine-CMR, T2-weighted "edema" imaging and T1-weighted late-gadolinium-enhancement (LGE) imaging. Various patterns and degrees of skeletal myopathy were present in the participants of this study, whereas clinical symptoms such as chest pain symptoms (in eight (22%) patients) and various degrees of dyspnea (in 16 (43%) patients) were less frequent. Pathological ECG findings were documented in eight (22%) patients. T2-weighted "edema" imaging was positive in one (3%) patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) only. LGE imaging demonstrated the presence of non-ischemic LGE in 12 (32%) patients: 10 out of 24 (42%) patients with CPEO (chronic progressive external ophthalmoplegia) or KSS (Kearns-Sayre syndrome) and 2 of 3 (67%) patients with MELAS were LGE positive. All 10 LGE-positive patients with CPEO or KSS demonstrated a potentially typical pattern of diffuse intramural LGE in the left-ventricular (LV) inferolateral segments.
  
  
  CONCLUSIONS
  Cardiac involvement is a frequent finding in patients with mitochondrial myopathy. A potentially characteristic pattern of diffuse intramural LGE in the LV inferolateral segments was identified in patients suffering from the subforms CPEO or KSS.
authors.affiliation: Division of Cardiology, Robert-Bosch-Krankenhaus, Stuttgart, Germany. ali.yilmaz@rbk.de
authors.forename: Ali
authors.initials: A
authors.lastname: Yilmaz
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Gdynia
authors.forename: Matthias
authors.initials: M
authors.lastname: Ponfick
authors.forename: Sabine
authors.initials: S
authors.lastname: Rösch
authors.forename: Alfred
authors.initials: A
authors.lastname: Lindner
authors.forename: Albert C
authors.initials: AC
authors.lastname: Ludolph
authors.forename: Udo
authors.initials: U
authors.lastname: Sechtem
mesh_terms: D004562:Electrocardiography; D005260:Female; D005682:Gadolinium; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000473:pathology; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000473:pathology*; D009206:Myocardium / Q000473:pathology*; D011446:Prospective Studies
chemical_list: D005682:Gadolinium