Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients
Dp. Dutka et al., Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients, CIRCULATION, 102(11), 2000, pp. 1276-1282
Citations number
35
Categorie Soggetti
Cardiovascular & Respiratory Systems","Cardiovascular & Hematology Research
Background-Conventional and tissue Doppler echocardiographically derived my
ocardial velocity gradients (MVGs) were used to characterize the myocardium
in patients with Friedreich's ataxia (FRDA), and the relationship between
MVGs and the mutation in the FRDA gene, a GAA triplet repeat expansion, was
investigated.
Methods and Results-We studied 29 patients with FRDA (10 men, mean age 31 /- 9 years) who were homozygous for the GAA expansion in the FRDA gene and
were without cardiac symptoms, A comparison was made with a group of 30 age
-matched control subjects. In patients with FRDA, interventricular septal t
hickness (1.17 +/- 0.26 versus 0.85 +/- 0.13 cm, P < 0.005), posterior left
ventricular wall thickness (1.00 +/- 0.24 versus 0.88 +/- 0.15 cm, P < 0.0
1), and left atrial diameter (3.3 +/- 0.5 versus 2.9 +/- 0.3 cm, P = 0.01)
were increased compared with control subjects. MVGs were reduced in FRDA du
ring systole (3.1 +/- 1.2 versus 4.5 +/- 0.5 s(-1), P < 0.0001) and in earl
y diastole (4.9 +/- 2.7 versus 8.8 +/- 1.8 s(-1) P < 0.0001) but increased
in late diastole (2.0 +/- 1.3 versus 1.1 +/- 0.9 s(-1), P < 0.01). The stro
ngest relationship was seen between age-corrected early diastolic MVGs and
the GAA expansion in the smaller allele of the FRDA gene (r = -0.68, P < 0.
0001).
Conclusions-MVGs offer a means of further characterizing the myocardial abn
ormalities in patients with FRDA. Early diastolic MVGs appear to relate mos
t closely to the genetic abnormality and the consequential reduction in fra
taxin protein.