Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation.
BACKGROUND
MELAS, or mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes is a new distinctive clinical entity. The current study was designed to assess ascending aortic elasticity in adult patients with MELAS syndrome and in gene carriers, and to compare the results with age- and gender-matched healthy controls.


METHODS
The study comprised eight patients with MELAS syndrome and four asymptomatic gene carriers. All subjects underwent complete 2-dimensional transthoracic echocardiography, and systolic and diastolic ascending aortic diameters (SD and DD respectively) were recorded in M-mode 3 cm above the aortic valve from a parasternal long-axis view. Aortic elastic properties were calculated using aortic data and forearm blood pressure values.


RESULTS
SD and DD of MELAS patients and gene carriers were enlarged compared with controls. Aortic stiffness index was increased (16.4+/-3.7 vs 3.6+/-1.1, p=0.00001), while aortic strain (0.035+/-0.012% vs 0.146+/-0.050%, p=0.00002) and aortic distensibility (1.03+/-0.30 cm2/dynes 10(-6) vs 4.70+/-1.69 cm2/dynes 10(-6), p=0.0002) were decreased in MELAS patients compared with controls. Aortic elastic properties of gene carriers were between MELAS patients and controls.


CONCLUSIONS
Increased ascending aortic stiffness and enlarged aortic dimensions suggesting vascular remodelling were found in MELAS patients as compared with controls.
Nemes
Attila
A
Department of Cardiology, Thorax Centre, Erasmus MC, Rotterdam, The Netherlands. nemes@in2nd.szote.u-szeged.hu
Geleijnse
Marcel L
ML
Sluiter
Wim
W
Vydt
Tom C G
TC
Soliman
Osama I I
OI
van Dalen
Bas M
BM
Vletter
Wim B
WB
ten Cate
Folkert J
FJ
Smeets
Hubert J M
HJ
de Coo
René F M
RF
D000328:Adult; D001011:Aorta / Q000000981:diagnostic imaging / Q000503:physiopathology*; D001794:Blood Pressure; D004272:DNA, Mitochondrial / Q000235:genetics*; D004452:Echocardiography; D004548:Elasticity; D005260:Female; D006579:Heterozygote; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation
D004272:DNA, Mitochondrial