Figure Legends
Figure 1: Natural history of forced vital capacity (FVC) with age in
boys with DMD. (a) shows FVC as % predicted (mean + 95%
confidence interval). (b) shows FVC in absolute values (mL; mean+ 95% confidence interval). Group A included patients with loss
of ambulation at <8 years of age. Group B included patients
with loss of ambulation between 8-11 years of age. Group C included
patients with loss of ambulation between 11 and 16 years of age. Adapted
from Humbertclaude et al.,14 and reproduced with
permission.
Figure 2: Cumulative survival for DMD patients with onset of left
ventricular dysfunction (LVD) <18 years versus> 18 years. Patients with onset of LVD at a later age
lived significantly longer than those with earlier onset of LVD. Adapted
from Wang et al.,15 and reproduced with permission.
Figure 3: Forced vital capacity (FVC, in liters) with age in two
brothers with DMD and variable pulmonary function. Each reached peak FVC
around the age of 18, but patient 1 maintained FVC near the peak level,
whereas his brother experienced a progressive decline after reaching
peak FVC. Adapted from Birnkrant et al.,16 and
reproduced with permission.
Figure 4: Changes in cardiac shortening fraction with age for patients
with deletion of exon 44 (solid lines) and deletion of exon 51 (dashed
lines). Despite identical dystrophin genotypes, patients experience
variable timing in rates of decline in shortening fraction, but once the
shortening fraction falls below 29% (solid horizontal line), the
decline becomes steadier and more uniform. Adapted from Wang et
al.,15 and reproduced with permission.
Figure 5: Cardiopulmonary phenotypic differences in patients with DMD
who were prolonged survivors (PS) versus those who experienced early
death (ED). (a) shows percentage of patients with a vital capacity of
0mL who experienced PS versus ED. (b) shows the mean ejection fraction
in those with PS and ED. Adapted from Birnkrant et
al.,20 and reproduced with permission.
Figure 6: Phenotypic discordance in patients with identical dystrophin
mutations. Four patients with deletion of exon 44 show diametrically
different profiles in heart and lung function despite an identical
dystrophin genotype. (A1, patient 1 in group A; A2, patient 2 in group
A; B1, patient 1 in group B; B2, patient 2 in group B; EF, ejection
fraction; FVC, forced vital capacity). Adapted from Jin et
al.,17 and reproduced with permission.
Figure 7: Survival curve showing time without cardiomyopathy on
echocardiogram. Adapted from Ashwath et al.,18 and
reproduced with permission.