Patients | BTHS1 | BTHS2 | BTHS3 | BTHS4 | BTHS5 | BTHS6 |
---|---|---|---|---|---|---|
Gender | Male | Male | Male | Male | Male | Male |
Birth weight (g) | 2000 | 2400 | 2850 | 2300 | 2650 | 2300 |
First presentation | Pneumonia | Heart failure | Muscle weakness | Pneumonia | Heart failure | Pneumonia |
Age of onset (months) | 2.5 | 2.5 | 6.0 | 6.5 | 1.0 | 1.5 |
Age at diagnosis of cardiomyopathy | 3.0 | 3.0 | 20.0 | 6.5 | 1.0 | 1.5 |
Growth retardation | + | + | + | + | + | + |
Muscle hypotonia | + | + | + | + | + | + |
Delayed motor | + | + | + | + | + | + |
Echocardiogram | ||||||
LVEDD z-score at diagnosis | 5.7 | 3.8 | 3.3 | 5.3 | 5.7 | 4.0 |
LVEF/LVSF at diagnosis (%) | 45.6/22.1 | 36.2/16.7 | 40.1/19.1 | 36.8/17.3 | 40.1/18.9 | 43.0/20.0 |
Noncompaction/compaction (NC/C) | 1.58 | 2.20 | 2.11 | 2.75 | 4.00 | 1.62 |
Electrocardiogram | ||||||
ST-T change | + | + | + | + | + | + |
QTC (milliseconds) | 441 | 431 | 401 | 341 | 460 | 403 |
Neutropenia | - | - | + | + | + | - |
Creatine kinase (range 55-170U/L) | 81 | 60 | 62 | 23 | 46 | 43 |
3-methylglutaconic aciduria | + | + | + | + | - | Not detected |
TAZ gene mutation | c.527A > G (p.H176R) | c.527A > G (p.H176R) | c.367C > T (p.R123X) | c.710_711delTG (p.V237AfsX73) | c.134_136delinsCC (p.H45PfsX38) | Not detected |
Age at death (months) | 7.0 | 7.5 | Alive | 7.5 | 12.0 | 7.0 |