PMID- 23129433
OWN - NLM
STAT- MEDLINE
DCOM- 20140224
LR  - 20220129
IS  - 2047-2412 (Electronic)
IS  - 2047-2404 (Print)
IS  - 2047-2404 (Linking)
VI  - 14
IP  - 7
DP  - 2013 Jul
TI  - Concentric hypertrophic remodelling and subendocardial dysfunction in 
      mitochondrial DNA point mutation carriers.
PG  - 650-8
LID - 10.1093/ehjci/jes226 [doi]
AB  - AIMS: Hypertrophic remodelling and systolic dysfunction are common in patients 
      with mitochondrial disease and independent predictors of morbidity and early 
      mortality. Screening strategies for cardiac disease are unclear. We investigated 
      whether myocardial abnormalities could be identified in mitochondrial DNA 
      mutation carriers without clinical cardiac involvement. METHODS AND RESULTS: 
      Cardiac magnetic resonance imaging was performed in 22 adult patients with 
      mitochondrial disease due to the m.3243A>G mutation, but no known cardiac 
      involvement, and 22 age- and gender-matched control subjects: (i) Phosphorus-31- 
      magnetic resonance spectroscopy, (ii) cine imaging (iii), cardiac tagging and 
      (iv) late gadolinium enhancement (LGE) imaging. Disease burden was determined 
      using the Newcastle Mitochondrial Disease Adult Scale (NMDAS) and urinary 
      mutation load. Compared with control subjects, patients had an increased left 
      ventricular mass index (LVMI), LV mass to end-diastolic volume (M/V) ratio, wall 
      thicknesses (all P < 0.01), torsion and torsion to endocardial strain ratio (both 
      P < 0.05). Longitudinal shortening was decreased in patients (P < 0.0001) and 
      correlated with an increased LVMI (r = -0.52, P < 0.03), but there were no 
      differences in the diastolic function. Among patients there was no correlation of 
      LVMI or the M/V ratio with diabetic or hypertensive status, but the mutation load 
      and NMDAS correlated with the LVMI (r = 0.71 and r = 0.79, respectively, both P < 
      0.001). The phosphocreatine/adenosine triphosphate ratio was decreased in 
      patients (P < 0.001) but did not correlate with other parameters. No patients 
      displayed focal LGE. CONCLUSION: Concentric remodelling and subendocardial 
      dysfunction occur in patients carrying m.3243A>G mutation without clinical 
      cardiac disease. Patients with higher mutation loads and disease burden may be at 
      increased risk of cardiac involvement.
FAU - Bates, Matthew G D
AU  - Bates MG
AD  - Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and 
      Health, Newcastle University, Newcastle upon Tyne, UK. 
      matthew.bates@newcastle.ac.uk
FAU - Hollingsworth, Kieren G
AU  - Hollingsworth KG
FAU - Newman, Jane H
AU  - Newman JH
FAU - Jakovljevic, Djordje G
AU  - Jakovljevic DG
FAU - Blamire, Andrew M
AU  - Blamire AM
FAU - MacGowan, Guy A
AU  - MacGowan GA
FAU - Keavney, Bernard D
AU  - Keavney BD
FAU - Chinnery, Patrick F
AU  - Chinnery PF
FAU - Turnbull, Douglass M
AU  - Turnbull DM
FAU - Taylor, Robert W
AU  - Taylor RW
FAU - Trenell, Michael I
AU  - Trenell MI
FAU - Gorman, Grainne S
AU  - Gorman GS
LA  - eng
GR  - G0700718/MRC_/Medical Research Council/United Kingdom
GR  - MR/K000608/1/MRC_/Medical Research Council/United Kingdom
GR  - G1100160/MRC_/Medical Research Council/United Kingdom
GR  - G0601943/MRC_/Medical Research Council/United Kingdom
GR  - CH/07/001/BHF_/British Heart Foundation/United Kingdom
GR  - G0800674/MRC_/Medical Research Council/United Kingdom
GR  - 096919/WT_/Wellcome Trust/United Kingdom
GR  - SRF-2011-04-017/DH_/Department of Health/United Kingdom
GR  - 074454/Z/04/Z/WT_/Wellcome Trust/United Kingdom
GR  - BH092142/WT_/Wellcome Trust/United Kingdom
GR  - RG/08/012/25941/BHF_/British Heart Foundation/United Kingdom
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20121104
PL  - England
TA  - Eur Heart J Cardiovasc Imaging
JT  - European heart journal. Cardiovascular Imaging
JID - 101573788
RN  - 0 (Contrast Media)
RN  - 0 (DNA, Mitochondrial)
RN  - K2I13DR72L (Gadolinium DTPA)
SB  - IM
MH  - Adult
MH  - Cardiomyopathies/diagnosis/genetics
MH  - Case-Control Studies
MH  - Cohort Studies
MH  - Contrast Media
MH  - DNA, Mitochondrial/*genetics
MH  - Female
MH  - Gadolinium DTPA
MH  - Heterozygote
MH  - Humans
MH  - Hypertrophy, Left Ventricular/*diagnosis/*genetics
MH  - Magnetic Resonance Imaging, Cine/methods
MH  - Magnetic Resonance Spectroscopy/methods
MH  - Male
MH  - Middle Aged
MH  - Mitochondrial Diseases/diagnosis/*genetics
MH  - Point Mutation
MH  - Prognosis
MH  - Reference Values
MH  - Statistics, Nonparametric
MH  - Ventricular Remodeling/*genetics/physiology
PMC - PMC3681541
OTO - NOTNLM
OT  - Cardiac tagging
OT  - Cardiomyopathy
OT  - Magnetic resonance imaging
OT  - Magnetic resonance spectroscopy
OT  - Mitochondrial disease
EDAT- 2012/11/07 06:00
MHDA- 2014/02/25 06:00
PMCR- 2012/11/04
CRDT- 2012/11/07 06:00
PHST- 2012/11/07 06:00 [entrez]
PHST- 2012/11/07 06:00 [pubmed]
PHST- 2014/02/25 06:00 [medline]
PHST- 2012/11/04 00:00 [pmc-release]
AID - jes226 [pii]
AID - 10.1093/ehjci/jes226 [doi]
PST - ppublish
SO  - Eur Heart J Cardiovasc Imaging. 2013 Jul;14(7):650-8. doi: 10.1093/ehjci/jes226. 
      Epub 2012 Nov 4.