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.