Table 1.
Characteristics of study participants
| Characteristics | Patients | Putative carriers | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9 | Case 10 | Case 11 | |
| Age (years) | 8.6 | 13.3 | 13.7 | 18.3 | 20.1 | 34.4 | 43.0 | 44.4 | 46.0 | 46.5 | 51.7 |
| Sex | Male | Male | Male | Male | Male | Male | Female | Female | Female | Female | Female |
| Type of muscular dystrophy | Duchenne | Duchenne | Becker | Becker | Myotonic | Becker | Becker | Duchenne | Duchenne | Becker | Duchenne |
| Body mass index (kg/m2) | 15.5 | 16.3 | 17.8 | 23.8 | 17.9 | 21.7 | 20.8 | 19.5 | 21.8 | 19.9 | 21.3 |
| Wheelchair bound | No | Yes | No | No | No | No | No | No | No | No | No |
| Medications | None | Enalapril 10 mg/day, Steroid | Enalapril 10 mg/day | Enalapril 10 mg/day, Bisoprolol 1.25 mg/day | Enalapril 5 mg/day, Carvedilol 5 mg/day | None | None | None | None | None | None |
| Blood data* | |||||||||||
| Creatine kinase (IU/L) | 6509 | 2739 | 1430 | 2158 | 240 | 328 | 66 | 76 | 192 | 71 | 93 |
| NT-proBNP (pg/mL† ) | 189 | 80 | NA‡ | 302 | 26 | 7 | 99 | 47 | 67 | 39 | 51 |
| Troponin T (ng/mL† ) | 0.059 | 0.115 | 0.024 | 0.073 | 0.046 | 0.005 | ≤0.014 | ≤0.014 | ≤0.014 | ≤0.014 | ≤0.014 |
| Hematocrit (%) | 40.8 | 40.8 | 38.0 | 40.8 | 47.9 | 47.5 | 37.5 | 40.2 | 40.6 | 42.6 | 38.8 |
| CMR findings | |||||||||||
| LVEF (%) | 57.6 | 54.0 | 56.5 | 31.8 | 46.4 | 53.7 | 56.2 | 61.0 | 49.6 | 60.3 | 65.3 |
| LVEDVI (mL/m2) | 53.5 | 50.5 | 49.4 | 115.0 | 68.9 | 53.9 | 51.1 | 65.7 | 62.5 | 58.6 | 54.0 |
| LVESVI (mL/m2) | 22.7 | 23.2 | 21.5 | 78.4 | 37.0 | 25.0 | 22.3 | 25.6 | 31.5 | 23.3 | 18.7 |
| LV mass (g) | 23.7 | 36.8 | 30.9 | 79.3 | 33.4 | 44.8 | 37.6 | 28.7 | 39.9 | 29.8 | 53.0 |
| LVMI (g/m2) | 26.7 | 32.6 | 23.7 | 46.7 | 21.2 | 27.2 | 26.5 | 19.4 | 26.4 | 18.3 | 33.3 |
| LGE extent, % of LV mass§ | NA | 6.8 | 6.2 | 14.6 | 0 | 5.3 | 0 | 2.6 | 19.8 | 0.5 | 1.2 |
| Native T1 value (ms) | |||||||||||
| Basal (mean) | 1292 | 1326 | 1325 | 1316 | 1279 | 1195 | 1269 | 1306 | 1293 | 1267 | 1259 |
| Mid-ventricular (mean) | 1276 | 1377 | 1300 | 1264 | 1240 | 1207 | 1336 | 1341 | 1334 | 1330 | 1269 |
| Apical (mean) | 1354 | 1480 | 1315 | 1452 | 1357 | 1297 | 1312 | 1408 | 1341 | 1407 | 1287 |
| ECV (%) | 32.3 | 39.7 | 37.0 | 43.8 | 32.6 | 27.6 | 38.7 | 39.8 | 36.1 | 37.4 | 36.7 |
Case 3 was the brother of Case 4, and Case 9 was the mother of Case 2.
The normal reference ranges for NT-proBNP and troponin T are ≤55 pg/mL and ≤0.014 ng/mL, respectively.
The plasma level of brain natriuretic peptide (normal reference range, ≤18.4 pg/mL) in Case 3 was 7.3 pg/mL.
Case 1 did not have sufficient image quality for LGE analysis due to an incomplete breath-hold.
BNP, brain natriuretic peptide; CMR, cardiovascular magnetic resonance; ECV, extracellular volume fraction; LGE, late gadolinium enhancement; LV, left ventricular; LVEDVI, left ventricular end-diastolic volume index; LVEF, left ventricular ejection fraction; LVESVI, left ventricular end-systolic volume index; LVMI, left ventricular mass index; NA, not available; NT-proBNP, N-terminal pro-brain natriuretic peptide.