Table 1. Serial plasma troponin I concentrations in a pedigree with Danon disease.
Patient and Age | c864 + 4A > G Mutation Status | Clinical Severity | BMI | Mean troponin I | Range | Standard Deviation |
---|---|---|---|---|---|---|
Case A. Eldest brother Age 21 5 years troponins |
Hemizygous | Deceased Severe |
37 | 4.6 | 2.0–6.3 | 1.5 |
Case B, Middle Son Aged 23 7 years of troponins |
Hemizygous | Deceased Severe |
28 | 8.7 | 0.8–40 | 11.0 |
Case C, Youngest Son Age 21 4 years of troponins |
Hemizygous | Severe | 37 | 7.0 | 3.8–18.4 | 6.3 |
Case D, Their mother Age 57 7 years of troponins |
Heterozygous | Moderate | 41.6 | 0.30 | 0.15–0.55 | 0.12 |
Case G, Their grandmother Age 76 1 year of troponins |
Heterozygous | Moderate | 26.8 | 0.13 | 0.1–0.15 | 0.03 |
Case F, Their Aunt Age 62 6 years of troponins |
Heterozygous | Mild/Moderate | 33.1 | 0.14 | 0.07–0.18 | 0.05 |
Case E, Their cousin Age 31 6 years of troponins |
Hemizygous | Minimal | 25.4 | 0.07 | N/A | 0.05 |
Note the higher body mass index values seen in the more severely affected children.
Reference range for healthy adults: 0–0.1 μg/L.