Table 3.
Patient characteristics of the cohort of all adult m.3243A>G carriers of which myocardial strain was reported
| Cardiac 2D strain cohort (24 carriers) | Difference from all carriers | |||||
|---|---|---|---|---|---|---|
| Central value | Spread | Range | n | p | ||
| Gender | % female | 75 | 24 | 0.80 | ||
| Age (years) | Mean, 95%CI | 44 | 25–63 | 24–64 | 24 | 0.80 |
| BMI (kg/m2) | Median, IQR | 22.3 | 21–26 | 18.3–35.8 | 24 | 0.91 |
| Smoking (current) | % yes | 22 | 23 | 0.78 | ||
| Diabetes mellitus (prevalence) | % yes | 45 | 24 | 0.48 | ||
| Heteroplasmy percentage, leukocytes (%) | Mean, 95%CI | 18a | 7–50 | 7–49 | 23 | 0.22 |
| Heteroplasmy percentage, UEC (%) | Mean, 95%CI | 56 | 24–93 | 23–96 | 24 | 0.078 |
| NMDAS score | Mean, 95%CI | 20 | 1–54 | 0–56 | 24 | 0.11 |
| Domain 1 | Mean, 95%CI | 5a | 0–23 | 0–23 | 24 | 0.11 |
| Domain 2 | Mean, 95%CI | 8 | 0–23 | 0–23 | 24 | 0.015 |
| Domain 3 | Mean, 95%CI | 3a | 0–16 | 0–18 | 24 | 0.97 |
| Myopathy score | Mean, 95%CI | 3 | 0–7 | 0–7 | 24 | 0.57 |
| Encephalopathy score | Median, IQR | 2 | 1–5 | 0–11 | 24 | 0.25 |
| Diabetes mellitus (severity) | Mean, 95%CI | 2 | 0–5 | 0–5 | 24 | 0.31 |
| Cardiomyopathy (severity) | Median, IQR | 0 | 0–2 | 0–5 | 24 | 0.06 |
| Stroke-like episodes (severity) | Median, IQR | 0 | 0–0 | 0–5 | 24 | 0.055 |
| QoL mental | Mean, 95%CI | 44 | 27–61 | 25–61 | 24 | 0.055 |
| QoL physical | Mean, 95%CI | 38 | 18–59 | 17–60 | 24 | 0.081 |
| [GDF15] (pg/mL) | Mean, 95%CI | 1,687a | 483–5,791 | 420–5,981 | 24 | 0.41 |
| [FGF21] (pg/mL) | Median, IQR | 321 | 252–768 | 4–1,491 | 24 | 0.084 |
Patient characteristics for those adult carriers (n = 24) for whom myocardial strain was measured. The difference at baseline between this cohort and all carriers was calculated (chi-square test (2 sided); Fisher’s exact test (2 sided), Mann-Whitney U test; independent sample t-test). The presence of diabetes mellitus was obtained from the NMDAS scale (score on diabetes mellitus item ≥3)
BMI body mass index, 95%CI 95% confidence interval, Domain 1 current function, Domain 2 system-specific involvement, Domain 3 current clinical assessment, Encephalopathy score sum of the encephalopathic symptoms of the NMDAS (psychiatric symptoms, migraine, seizure, stroke-like episodes, encephalopathy, and cognition), GDF15 growth and differentiation factor 15, IQR interquartile range, Myopathy score sum of the myopathic symptoms of the NMDAS (exercise intolerance, respiratory muscle weakness, ptosis, external ophthalmoplegia, and myopathy), n = number of carriers of which data were available at that specific time point, NMDAS Newcastle mitochondrial disease adult scale, UEC urinary epithelial cells
aLognormal distribution